✦ LIBER ✦

Novel cardiac β-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy

✍ Scribed by Ryuichiro Anan; Hirohisa Shono; Chuwa Tei

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 11 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200006)15:6<584::aid-humu25>3.0.co;2-r

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Missense mutation of the β-cardiac myosi

Missense mutation of the β-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy

✍ Arai, Shoichi ;Matsuoka, Rumiko ;Hirayama, Kenji ;Sakurai, Hisanao ;Tamura, Masa 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 911 KB

A novel missense mutation (R712L) adjace

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

✍ Sadayappan Sakthivel; Pulavelil Kurian Joseph; Jagan Mohan Tharakan; Hans-Peter 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 3 views

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

Genotype-phenotype analysis in four fami

Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy

✍ Frédérique Tesson; Pascale Richard; Philippe Charron; Bénédicte Mathieu; Corinne 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease in which one of the most frequently implicated gene is the gene encoding the b-myosin heavy chain. To date, more than 40 distinct mutations have been found within this gene. In order to progress on the determination of genot