Three novel mutations and a De novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 11, 1997, Pages 3835-3841

  Nakae, Jun ^a   Abe, Shuji ^a   Tajima, Toshihiro ^a   Shinohara, Nozomi ^a   Murashita, Mari ^a   Igarashi, Yutaka ^b   Kusuda, Satoshi ^c   Suzuki, Junzou ^d   Fujieda, Kenji ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b Igarashi Children's Clinic   (Japan)

^c OSAKA CITY GENERAL HOSPITAL   (Japan)

^d FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL INSUFFICIENCY; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DELETION MUTANT; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; NEWBORN; PRIORITY JOURNAL; PROTEIN STRUCTURE; RECEPTOR GENE; STRUCTURE ACTIVITY RELATION; X CHROMOSOME LINKAGE;

EID: 0030690161     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.82.11.4342     Document Type: Article

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