Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.
Moolman-Smook
J
J
De Lange
W
W
Corfield
V
V
Brink
P
P
D000293:Adolescent; D000328:Adult; D000368:Aged; D000409:Alanine / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology / Q000235:genetics*; D002648:Child; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control; D005260:Female; D018703:Founder Effect; D005786:Gene Expression Regulation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000096:biosynthesis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D011446:Prospective Studies; D013019:South Africa; D013912:Threonine / Q000235:genetics*
D013912:Threonine; D018995:Myosin Heavy Chains; D000409:Alanine