Growth hormone (GH) deficiency type II: A novel GH-1 gene mutation (GH-R178H) affecting secretion and action

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 2, 2010, Pages 731-739

  Petkovic, Vibor ^a   Godi, Michela ^b   Pandey, Amit V ^a   Lochmatter, Didier ^a   Buchanan, Charles R ^c   Dattani, Mehul T ^d   Eblé, Andrée ^a   Flück, Christa E ^a   Mullis, Primus E ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FORSKOLIN; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; HISTIDINE; JANUS KINASE 2; SOMATOMEDIN; STAT5 PROTEIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BINDING AFFINITY; BODY HEIGHT; BONE AGE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVATION; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GH 1 GENE; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE DEFICIENCY TYPE II; HETEROZYGOSITY; HORMONE ACTION; HORMONE RELEASE; HUMAN; HUMAN CELL; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROVOCATION TEST; RECEPTOR BINDING; SCHOOL CHILD; SHORT STATURE; SIGNAL TRANSDUCTION; WILD TYPE;

PSEUDOMONAS PHAGE GH-1;

EID: 76149127329     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1247     Document Type: Article

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