Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

American Journal of Medical Genetics

Volumn 76, Issue 1, 1998, Pages 62-66

  Hamaguchi, Kazuyuki ^a,c   Arikawa, Masaya ^a   Yasunaga, Seikoh ^a   Kakuma, Tetsuya ^a   Fukagawa, Koji ^a,c   Yanase, Toshihiko ^b   Nawata, Hajime ^b   Sakata, Toshiie ^a  

^a OITA UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c OITA UNIVERSITY   (Japan)

Author keywords

Adrenal hypoplasia congenita; DAX1; Hypogonadotropic hypogonadism

Indexed keywords

DNA;

ADRENAL DISEASE; ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; GENE MUTATION; HUMAN; HUMAN CELL; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

ADRENAL GLANDS; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHORIONIC GONADOTROPIN; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FOLLICLE STIMULATING HORMONE; FRAMESHIFT MUTATION; HUMANS; HYPOGONADISM; LINKAGE (GENETICS); MALE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0032567977     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980226)76:1<62::AID-AJMG11>3.0.CO;2-N     Document Type: Article

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