Autosomal dominant GH deficiency due to an Arg183his GH-1 gene mutation: Clinical and molecular evidence of impaired regulated GH secretion

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 8, 2001, Pages 3941-3947

  Deladoey J ^a   Stocker, P ^a   Mullis, P E ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FORSKOLIN; GENE PRODUCT; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; HISTIDINE; PROTEIN GH1; PYRIDOSTIGMINE; RECOMBINANT GROWTH HORMONE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DOSE TIME EFFECT RELATION; GENE ISOLATION; GENE MUTATION; GH1 GENE; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HORMONAL REGULATION; HUMAN; INHERITANCE; MALE; MOUSE; NEUROPATHOLOGY; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROVOCATION TEST; REGULATORY MECHANISM; SCHOOL CHILD; SOMATIC CELL GENETICS;

AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; CELL LINE; CHILD; CHO CELLS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; CRICETINAE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FORSKOLIN; GENES, DOMINANT; GROWTH DISORDERS; GROWTH HORMONE; HISTIDINE; HUMANS; HYPOPITUITARISM; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR I; MALE; MICE; PEDIGREE; PITUITARY GLAND; POINT MUTATION; POLYMERASE CHAIN REACTION; RECOMBINANT PROTEINS; SWITZERLAND; TESTOSTERONE; THYROID HORMONES; TRANSFECTION; TURKEY;

EID: 0034885411     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.8.3941     Document Type: Article

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