Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Nature

Volumn 372, Issue 6507, 1994, Pages 672-676

  Muscatelli, Françoise ^a   Strom, Tim M ^b   Walker, Ann P ^a   Zanaria, Elena ^c   Récan, Dominique ^d   Meindl, Alfons ^b   Bardoni, Barbara ^c   Guioli, Silvana ^c   Zehetner, Günther ^e   Rabl, Wolfgang ^f   Peter Schwarz, Hans ^g   Kaplan, Jean Claude ^d   Camerino, Giovanna ^c   Meitinger, Thomas ^b   Monaco, Anthony P ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF PAVIA   (Italy)

^d Hôpital Cochin ^*  (France)

^e IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; GLYCEROL KINASE; HORMONE RECEPTOR;

ADRENAL GLAND MALFORMATION; ADRENAL INSUFFICIENCY; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DUCHENNE MUSCULAR DYSTROPHY; ENZYME DEFICIENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; INFANT; MALE; NEWBORN; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADRENAL GLAND HYPOFUNCTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; DNA-BINDING PROTEINS; HUMAN; HYPOGONADISM; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; POINT MUTATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, RETINOIC ACID; RESTRICTION MAPPING; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0028598360     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/372672a0     Document Type: Article

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