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Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy is a primary cardiac disease, characterised by idiopathic myocardial hypertrophy, and is caused by defects in sarcomeric protein encoding genes. One of these genes is cardiac myosin binding protein C (MyBP-C), in which a number of splice site and duplication mutations cau...

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Main Authors: Moolman-Smook, J C, Mayosi, B, Brink, P, Corfield, V A
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051254/
https://ncbi.nlm.nih.gov/pubmed/9541115
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