(Q35197085)

7 August 2017

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews (English)

1 reference

familial hypercholesterolemia

7 August 2017

0 references

1 reference

Meiner V

1

1 reference

7 August 2017

Landsberger D

2

1 reference

7 August 2017

Berkman N

3

1 reference

7 August 2017

Reshef A

4

1 reference

7 August 2017

Segal P

5

1 reference

7 August 2017

Seftel HC

6

1 reference

7 August 2017

van der Westhuyzen DR

7

1 reference

7 August 2017

Jeenah MS

8

1 reference

7 August 2017

Coetzee GA

9

1 reference

7 August 2017

Leitersdorf E

10

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 August 1991

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

49

1 reference

7 August 2017

2

1 reference

7 August 2017

443-449

1 reference

Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

A PCR artifact: generation of heteroduplexes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Prevalence of familial hypercholesterolemia in Johannesburg Jews

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Polymorphic DNA haplotypes at the LDL receptor locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

DNA sequencing with chain-terminating inhibitors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

A host of hypercholesterolaemic homozygotes in South Africa.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683281

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1867200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1867200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1867200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1683281

1 reference

7 August 2017

1 reference