(Q43959430)

28 November 2017

title

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation (English)

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homozygous familial hypercholesterolemia

28 November 2017

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Georges Nemer

8

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author name string

Akl C Fahed

1

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28 November 2017

Raya M Safa

2

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28 November 2017

Fadi F Haddad

3

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28 November 2017

Fadi F Bitar

4

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28 November 2017

Rabih R Andary

5

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28 November 2017

Mariam T Arabi

6

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28 November 2017

Sami T Azar

7

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28 November 2017

publication date

11 November 2010

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Molecular Genetics and Metabolism

28 November 2017

published in

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28 November 2017

volume

102

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28 November 2017

issue

2

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28 November 2017

page(s)

181-188

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Mechanisms of disease: genetic causes of familial hypercholesterolemia

28 November 2017

cites work

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THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

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Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia

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

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Experiences with the Homozygous Cases of Familial Hypercholesterolemia

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

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The LDL receptor gene: a mosaic of exons shared with different proteins

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Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

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Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

7 January 2021

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Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

7 January 2021

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Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.

7 January 2021

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

7 January 2021

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The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil

7 January 2021

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Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

7 January 2021

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The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene

7 January 2021

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7 January 2021

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In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia

7 January 2021

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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

7 January 2021

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Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

7 January 2021

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Genotype/phenotype correlations in familial hypercholesterolaemia

7 January 2021

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Consanguinity in Lebanon: prevalence, distribution and determinants.

7 January 2021

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Homozygous familial hypercholesterolemia and its management

7 January 2021

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Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis

7 January 2021

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ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature

7 January 2021

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Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

7 January 2021

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Hypercholesterolemia and LDL apheresis.

7 January 2021

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Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

7 January 2021

1 reference

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10.1016/J.YMGME.2010.11.006

7 January 2021

Identifiers

DOI

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28 November 2017

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