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Titolo:
Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma
Autore:
Ko, HM; Chung, JH; Lee, JH; Jung, IS; Choi, IS; Juhng, SW; Choi, C;
Indirizzi:
Chonnam Natl Univ, Sch Med, Dept Pathol, Res Inst Med Sci, Kwangju 501746,South Korea Chonnam Natl Univ Kwangju South Korea 501746 Kwangju 501746,South Korea Kwangju Vet Hosp, Dept Anat Pathol, Kwangju, South Korea Kwangju Vet HospKwangju South Korea Anat Pathol, Kwangju, South Korea
Titolo Testata:
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
fascicolo: 2, volume: 20, anno: 2001,
pagine: 196 - 199
SICI:
0277-1691(200104)20:2<196:ARGMAW>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
TESTICULAR FEMINIZATION; POINT MUTATIONS; BINDING;
Keywords:
androgen receptor gene mutation; complete androgen insensitivity syndrome; Sertoli cell adenoma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Choi, C Chonnam Natl Univ, Sch Med, Dept Pathol, Res Inst Med Sci, 5 Hakdong, Kwangju 501746, South Korea Chonnam Natl Univ 5 Hakdong Kwangju South Korea 501746 outh Korea
Citazione:
H.M. Ko et al., "Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma", INT J GYN P, 20(2), 2001, pp. 196-199

Abstract

We report a case of Sertoli cell adenoma in complete androgen insensitivity syndrome (CAIS) in a 22-year-old woman. Polymerase chain reaction-single strand conformation polymorphism and DNA sequencing revealed a single nucleotide substitution on exon 7 of the human androgen receptor (hAR) gene, resulting in a change of CGA (arginine) to CAA (glutamine) in codon 831.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 16:01:59