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A novel missense mutation (R712L) adjacent to the “active thiol” region of the cardiac β‐myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
Author(s) -
Sakthivel Sadayappan,
Joseph Pulavelil Kurian,
Tharakan Jagan Mohan,
Vosberg HansPeter,
Rajamanickam Chellam
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200003)15:3<298::aid-humu22>3.0.co;2-7
Subject(s) - missense mutation , medical school , medicine , biology , mutation , genetics , gene , medical education