An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II

Clinical Genetics

Volumn 61, Issue 3, 2002, Pages 222-225

  Takahashi, I ^a   Takahashi, Tsutomu ^a   Komatsu, M ^a   Sato, T ^a   Takada, G ^a  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Exonic mutation; GH 1 gene; IGHD type II

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; GROWTH HORMONE; HUMAN GROWTH HORMONE; MESSENGER RNA; MUTANT PROTEIN; NUCLEOTIDE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DNA DETERMINATION; DNA SEQUENCE; DNA SYNTHESIS; DNA TRANSCRIPTION; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HORMONE SUBSTITUTION; HUMAN; ISOLATED GROWTH HORMONE DEFICIENCY TYPE 2; JAPAN; LYMPHOBLAST; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN SECRETION; RNA SPLICING;

ALTERNATIVE SPLICING; CHILD, PRESCHOOL; CODON, NONSENSE; GROWTH HORMONE; HUMANS; INFANT; MALE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

PSEUDOMONAS PHAGE GH-1;

EID: 0036524155     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610310.x     Document Type: Article

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