Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas (Q42614513)

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scientific article published on March 1, 1991

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Language	Label	Description	Also known as
English	Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas	scientific article published on March 1, 1991

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

title

Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas (English)

1 reference

stated in

Crossref

DOI

10.1007/BF00194631

reference URL

https://api.crossref.org/works/10.1007/BF00194631

retrieved

25 October 2022

main subject

hypercholesterolemia

0 references

genetics

1 reference

stated in

Crossref

DOI

10.1007/BF00194631

reference URL

https://api.crossref.org/works/10.1007/BF00194631

retrieved

25 October 2022

author name string

K. Yamakawa

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

H. Yanagi

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

K. Saku

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

J. Sasaki

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

T. Okafuji

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

Y. Shimakura

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

K. Kawai

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

S. Tsuchiya

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

K. Takada

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

S. Naito

series ordinal

10

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673111

retrieved

25 October 2022

language of work or name

English

1 reference

stated in

National Center for Biotechnology Information

PubMed publication ID

1673111

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1673111

retrieved

25 October 2022

publication date

1 March 1991

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00194631.pdf

file format

Portable Document Format

1 reference

stated in

Crossref

DOI

10.1007/BF00194631

reference URL

https://api.crossref.org/works/10.1007/BF00194631

retrieved

25 October 2022

http://link.springer.com/article/10.1007/BF00194631/fulltext.html

file format

HTML

1 reference

stated in

Crossref

DOI

10.1007/BF00194631

reference URL

https://api.crossref.org/works/10.1007/BF00194631

retrieved

25 October 2022

http://link.springer.com/content/pdf/10.1007/BF00194631

1 reference

stated in

Crossref

DOI

10.1007/BF00194631

reference URL

https://api.crossref.org/works/10.1007/BF00194631

retrieved

25 October 2022

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

volume

86

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

issue

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

page(s)

445-449

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

cites work

Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ultrasonographic method for detection of Achilles tendon xanthomas in familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radiographic determination of Achilles tendon xanthoma size

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1673111

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00194631

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

Dimensions Publication ID

1021135842

0 references

PubMed publication ID

1673111

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1673111

retrieved

3 November 2017

 

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