A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region (Q71999877)

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scientific article published on 01 June 1994

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English	A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region	scientific article published on 01 June 1994

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

title

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

author name string

K Yamakawa-Kobayashi

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

T Kobayashi

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

H Yanagi

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

Y Shimakura

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

J Satoh

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

H Hamaguchi

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

publication date

1 June 1994

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

volume

93

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

issue

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

page(s)

625-628

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

cites work

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

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/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8005585

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00201560

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

PubMed publication ID

8005585

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8005585

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

retrieved

22 October 2019

 

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