A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.

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Citation

Sakthivel S, Joseph PK, Tharakan JM, Vosberg HP, Rajamanickam C

A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.

Hum Mutat. 2000 Mar;15(3):298-9.

PubMed ID
10679957 [ View in PubMed
]
Abstract

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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Myosin-7P12883Details