Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg → Cys at codon 120 (R120C)

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 10, 1998, Pages 3727-3734

  Flück, Christa ^a   Deladoey, Johnny ^a   Rutishauser, Kuno ^a   Eblé, Andrée ^a   Marti, Ulrich ^a   Wu, Wei ^b   Mullis, Primus E ^a,c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE;

AMINO ACID SUBSTITUTION; ARTICLE; CELL PROLIFERATION; CODON; FAMILIAL DISEASE; GENE MUTATION; GENETIC VARIABILITY; GROWTH RETARDATION; HORMONE DEFICIENCY; HUMAN; HUMAN CELL; HYPOPHYSIS FUNCTION; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; MULTIGENE FAMILY; ORGANOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADRENOCORTICOTROPIC HORMONE; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CODON; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; PITUITARY HORMONES; TRANSCRIPTION FACTORS;

EID: 0031741771     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.10.3727     Document Type: Article

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