Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana (Q71995484)

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22 October 2019

title

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649549%20AND%20SRC:MED&resulttype=core&format=json

familial hypercholesterolemia

22 October 2019

main subject

1 reference

1 reference

E. Pereira

1

1 reference

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16 July 2024

R. Ferreira

2

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16 July 2024

B. Hermelin

3

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G. Thomas

4

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C. Bernard

5

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V. Bertrand

6

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H. Nassiff

7

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D. Mendez del Castillo

8

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G. Bereziat

9

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P. Benlian

10

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publication date

1 September 1995

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22 October 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7649549

http://link.springer.com/content/pdf/10.1007/BF00210415.pdf

16 July 2024

work available at URL

1 reference

https://api.crossref.org/works/10.1007/BF00210415

http://link.springer.com/article/10.1007/BF00210415/fulltext.html

16 July 2024

1 reference

https://api.crossref.org/works/10.1007/BF00210415

http://link.springer.com/content/pdf/10.1007/BF00210415

16 July 2024

1 reference

https://api.crossref.org/works/10.1007/BF00210415

16 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649549%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

96

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22 October 2019

issue

3

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22 October 2019

page(s)

319-322

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AHaelIIpolymorphism in the 3′ untranslated region of the low density lipoprotein receptor (LDLR) gene

22 October 2019

cites work

1 reference

12 December 2020

A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

1 reference

12 December 2020

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

1 reference

12 December 2020

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

1 reference

12 December 2020

Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia

1 reference

12 December 2020

Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

The low density lipoprotein receptor in Xenopus laevis. I. Five domains that resemble the human receptor

1 reference

12 December 2020

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

12 December 2020

Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia

1 reference

12 December 2020

A study of the genetical structure of the Cuban population: red cell and serum biochemical markers

1 reference

12 December 2020

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

12 December 2020

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

1 reference

12 December 2020

Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI

1 reference

12 December 2020

Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

1 reference

12 December 2020

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

1 reference

12 December 2020

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia

1 reference

12 December 2020

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7649549%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference