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Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

Familial hypertrophic cardiomyopathy (FHC) is a clinically and genetically heterogeneous disease. The first identified disease gene, located on chromosome 14q11-q12, encodes the beta-myosin heavy chain. We have performed linkage analysis of two French FHC pedigrees, 720 and 730, with two microsatell...

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Podrobná bibliografie
Vydáno v:J Clin Invest
Hlavní autoři: Dausse, E, Komajda, M, Fetler, L, Dubourg, O, Dufour, C, Carrier, L, Wisnewsky, C, Bercovici, J, Hengstenberg, C, al-Mahdawi, S
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1993
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288481/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8254035/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116900
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