Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRD3 isoform

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 4, 2003, Pages 1705-1710

  Pantel, Jacques ^a   Grulich Henn, Jürgen ^b   Bettendorf, Markus ^b   Strasburger, Christian J ^c   Heinrich, Udo ^b   Amselem, Serge ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c Division of Clinical Endocrinology   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; ISOPROTEIN; RECEPTOR SUBTYPE; SOMATOMEDIN C;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CORRELATION ANALYSIS; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEQUENCE; GENOTYPE; GROWTH HORMONE BLOOD LEVEL; GROWTH RETARDATION; HETEROZYGOTE; HORMONE BLOOD LEVEL; HORMONE RESISTANCE; HUMAN; LARON SYNDROME; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ALTERNATIVE SPLICING; CELL LINE, TRANSFORMED; CODON, NONSENSE; DRUG RESISTANCE; EXONS; GENOTYPE; GROWTH DISORDERS; GROWTH HORMONE; HERPESVIRUS 4, HUMAN; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INSULIN-LIKE GROWTH FACTOR I; LYMPHOCYTES; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN ISOFORMS; RECEPTORS, SOMATOTROPIN; RNA, MESSENGER; SYNDROME;

STAPHYLOCOCCUS PHAGE 3A; UNIDENTIFIED RETROVIRUS;

EID: 0038359743     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021667     Document Type: Article

References (34)

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