Arg183His, a new mutational 'hot-spot' in the growth hormone (GH) gene causing isolated GH deficiency type II

Journal of Endocrine Genetics

Volumn 1, Issue 3, 2000, Pages 125-135

  Wajnrajch, M P ^a   Gertner, J M ^a   Mullis, P E ^a   Deladoey, J ^a   Cogan, J D ^a   Lekhakula, S ^a   Kim, S ^a   Dannies, P S ^a   Saenger, P ^a   Moshang, T ^a   Phillips III, J A ^a   Leibel, R L ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Autosomal dominant; CpG dinucleotide; Hot spot; Isolated growth hormone deficiency (IGHD) type II; Short stature

Indexed keywords

ARGININE; GROWTH HORMONE; HISTIDINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DIAGNOSTIC PROCEDURE; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; GROWTH HORMONE DEFICIENCY; HUMAN; INTRON; MALE; MISSENSE MUTATION; NICK END LABELING; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SHORT STATURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034078281     PISSN: 1565012X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)