Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations-Reference-Cited by-同舟云学术

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Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

Published:2009-05-01 Issue:5 Volume:46 Page:352-357
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Bourbon M,Duarte M A,Alves A C,Medeiros A M,Marques L,Soutar A K

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Variant Analysis in LDLR Gene Uncovers Genetic Basis of Familial Hypercholesterolemia: A Case Report;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2024

2. The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects;Frontiers in Genetics;2022-07-15

3. LDLR variants functional characterization: Contribution to variant classification;Atherosclerosis;2021-07

4. Familial hypercholesterolemia;Clinical DNA Variant Interpretation;2021

5. Innovative Therapeutic and Delivery Approaches Using Nanotechnology to Correct Splicing Defects Underlying Disease;Frontiers in Genetics;2020-07-14

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