Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene (Q34281912)

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English	Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene	scientific article

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PubMed publication ID

14661079

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1 August 2017

title

Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene (English)

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Europe PubMed Central

PubMed publication ID

14661079

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1 August 2017

main subject

hypercholesterolemia

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author name string

Yuko Fujita

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1

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Europe PubMed Central

PubMed publication ID

14661079

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1 August 2017

Yoichi Ezura

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2

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PubMed publication ID

14661079

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1 August 2017

Mitsuru Emi

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3

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PubMed publication ID

14661079

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1 August 2017

Keiko Sato

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4

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PubMed publication ID

14661079

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1 August 2017

Daisuke Takada

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5

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PubMed publication ID

14661079

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1 August 2017

Yasuhiko Iino

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6

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14661079

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1 August 2017

Yasuo Katayama

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7

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14661079

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1 August 2017

Kaneo Takahashi

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8

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PubMed publication ID

14661079

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1 August 2017

Kouhei Kamimura

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9

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PubMed publication ID

14661079

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1 August 2017

Hideaki Bujo

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10

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PubMed publication ID

14661079

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1 August 2017

Yasushi Saito

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11

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PubMed publication ID

14661079

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1 August 2017

publication date

6 December 2003

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PubMed publication ID

14661079

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1 August 2017

published in

Journal of Human Genetics

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PubMed publication ID

14661079

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1 August 2017

volume

49

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Europe PubMed Central

PubMed publication ID

14661079

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1 August 2017

issue

1

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PubMed publication ID

14661079

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1 August 2017

page(s)

24-28

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PubMed publication ID

14661079

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1 August 2017

cites work

Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

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PubMed

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12 December 2020

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cDNA and deduced amino acid sequence of human PK-120, a plasma kallikrein-sensitive glycoprotein

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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More von Willebrand factor type A domains? Sequence similarities with malaria thrombospondin-related anonymous protein, dihydropyridine-sensitive calcium channel and inter-α-trypsin inhibitor

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Effect of bezafibrate treatment on the altered lipoprotein profiles in hypertriglyceridemic subjects

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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A high-throughput SNP typing system for genome-wide association studies

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12 December 2020

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Genetic mutations affecting human lipoprotein metabolism.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Lipoproteins and cardiovascular risk-from genetics to CHD prevention

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes: genomic structure and seven polymorphisms of the FAP-1 gene

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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The three heavy-chain precursors for the inter-alpha-inhibitor family in mouse: new members of the multicopper oxidase protein group with differential transcription in liver and brain

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Development of genetic hypotheses in essential hypertension

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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SNP alleles in human disease and evolution

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred

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https://pubmed.ncbi.nlm.nih.gov/14661079

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Significance of hypertriglyceridemia in the occurrence of ischemic heart disease

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Cloning and characterization of cDNA for inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP), a novel human plasma glycoprotein

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

based on heuristic

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Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/14661079

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12 December 2020

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Identifiers

DOI

10.1007/S10038-003-0101-8

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Europe PubMed Central

PubMed publication ID

14661079

retrieved

1 August 2017

PubMed publication ID

14661079

1 reference

stated in

Europe PubMed Central

PubMed publication ID

14661079

retrieved

1 August 2017

ResearchGate publication ID

8971774

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