A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy

To study the cardiac troponin T (TNNT2) gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the correlation between the genotype and phenotype. Specimens of peripheral blood were collected from 71 unrelated Chinese probands with HCM, aged 40 +/- 18. The genome DNA...

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Veröffentlicht in:	Zhong hua yi xue za zhi 2004-08, Vol.84 (16), p.1340-1343
Hauptverfasser:	An, Feng-shuang, Zhang, Yun, Li, Da-qing, Yang, Xing-sheng, Li, Li, Zhang, Cheng, Yan, Mo-lei, Wang, Yan, An, Gui-peng
Format:	Artikel
Sprache:	chi
Schlagworte:	Adult Base Sequence Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - mortality Female Genotype Humans Hypertrophy, Left Ventricular - genetics Male Middle Aged Molecular Sequence Data Mutation, Missense Pedigree Phenotype Point Mutation Polymorphism, Single-Stranded Conformational Sequence Analysis, DNA Troponin T - genetics
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