Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives-Reference-Cited by-同舟云学术

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Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

Published:2008-11-25 Issue:3 Volume:30 Page:363-370
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Andersen Paal Skytt,Havndrup Ole,Hougs Lotte,Sørensen Karina M.,Jensen Morten,Larsen Lars Allan,Hedley Paula,Bie Thomsen Alex Rojas,Moolman-Smook Johanna,Christiansen Michael,Bundgaard Henning

Funder

Fonden til Laegevidenskabens Fremme (Emil C. Hertz and Inger Hertz Foundation), Copenhagen, Denmark

Danish Heart Association

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20862/fullpdf

Reference44 articles.

1. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands;Alders;Eur Heart J,2003

2. Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene;Andersen;Clin Genet,1999

3. Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations;Andersen;J Med Genet,2001

4. High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method;Andersen;Hum Mutat,2003

5. Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency;Andersen;Eur J Hum Genet,2004

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1. Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy;Journal of the American Heart Association;2024-05-21

2. Unique Aspects of Hypertrophic Cardiomyopathy in Children;Canadian Journal of Cardiology;2024-05

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5. Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study;Genes;2023-11-04

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