Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations

Fertility and Sterility

Volumn 94, Issue 2, 2010, Pages 472-476

  Philibert, Pascal ^a   Audran, Françoise ^a   Pienkowski, Catherine ^b   Morange, Isabelle ^c   Kohler, Birgit ^d   Flori, Elisabeth ^e   Heinrich, Claudine ^f   Dacou Voutetakis, Catherine ^g   Joseph, Marie Geneviève ^h   Guedj, Anne Marie ⁱ   Journel, Hubert ^j   Hecart Bruna, Annie Claude ^k   Khotchali, Ines ^l   Ten, Svetlana ^m   Bouchard, Philippe ⁿ   Paris, Françoise ^a,o   Sultan, Charles ^a,o  

^a LAPEYRONIE HOSPITAL   (France)

^b HÔPITAL DES ENFANTS   (France)

^c TIMONE HOSPITAL   (France)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^g UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^h HÔPITAL PELLEGRIN   (France)

ⁱ DEPARTMENT OF NEUROLOGY   (France)

^j Service de Génétique Médicale et Oncogénétique   (France)

^k REIMS UNIVERSITY HOSPITAL   (France)

^l FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

^m MAIMONIDES MEDICAL CENTER   (United States)

ⁿ HÔPITAL SAINT ANTOINE   (France)

^o MONTPELLIER UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Androgen receptor; complete androgen insensitivity syndrome; exon 1 mutation; premature stop codon

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA EXTRACTION; DNA SEQUENCE; EMBRYONIC STRUCTURES; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; KARYOTYPE 46,XY; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PREVALENCE; PRIORITY JOURNAL; RECEPTOR GENE; RETROSPECTIVE STUDY; STOP CODON; TESTOSTERONE SYNTHESIS; TRANSACTIVATION;

ALTERNATIVE SPLICING; ANDROGEN-INSENSITIVITY SYNDROME; CODON, NONSENSE; COHORT STUDIES; COOPERATIVE BEHAVIOR; EXONS; FEMALE; HUMANS; INTERNATIONAL COOPERATION; MALE; PREVALENCE; RECEPTORS, ANDROGEN; RETROSPECTIVE STUDIES;

EID: 77953808334     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2009.03.057     Document Type: Article

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