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

✍ Scribed by Sadayappan Sakthivel; Pulavelil Kurian Joseph; Jagan Mohan Tharakan; Hans-Peter Vosberg; Chellam Rajamanickam

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 13 KB
• Volume: 15
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(200003)15:3<298::aid-humu22>3.0.co;2-7

✦ Synopsis

A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac ß-myosin heavy chain gene causing