A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads

Fertility and Sterility

Volumn 72, Issue 1, 1999, Pages 170-173

  Chen, Chih Ping ^a   Chen, Schu Rern ^a   Wang, Tao Yeuan ^a   Wang, Wayseen ^a   Hwu, Yuh Ming ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Androgen receptor gene; Complete androgen insensitivity syndrome; Germ cell tumor; Laparoscopy; Placental alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE; ANDROGEN RECEPTOR; DNA; TESTOSTERONE;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ANIMAL TISSUE; ARTICLE; BINDING SITE; CASE REPORT; DNA BINDING; DYSGERMINOMA; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GERM CELL TUMOR; GONADAL DYSGENESIS; GONADOBLASTOMA; HUMAN; IMMUNOHISTOCHEMISTRY; MUELLERIAN DUCT; PRIORITY JOURNAL; TESTOSTERONE BLOOD LEVEL;

ADULT; ANDROGEN-INSENSITIVITY SYNDROME; BINDING SITES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DYSGERMINOMA; FEMALE; FRAMESHIFT MUTATION; GONADAL DYSGENESIS; HUMANS; KARYOTYPING; MALE; MULLERIAN DUCTS; NEOPLASMS, GERM CELL AND EMBRYONAL; RECEPTORS, ANDROGEN;

EID: 0033168761     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0015-0282(99)00169-7     Document Type: Article

References (4)

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4. Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J., Wilson E.M., et al. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA. 86:1989;9534-9538.