Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain

Fertility and Sterility

Volumn 90, Issue 4, 2008, Pages 1199.e1-1199.e8

  Shahid, Mohd ^a   Dhillon, Varinderpal S ^b   Hussain, Zahid ^a   Masa, Juan F ^c   Aslam, Mohd ^a   Raish, Mohd ^a   Ahmad, Arif ^a   Khan, Nida Jamil ^a   Prasad, Sudha ^d   Batra, Swaraj ^d   Pasha, Syed T ^e   Husain, Syed Akhtar ^a  

^a JAMIA MILLIA ISLAMIA CENTRAL UNIVERSITY   (India)

^b CSIRO   (Australia)

^c HOSPITAL SAN PEDRO DE ALCÁNTARA   (Spain)

^d LOK NAYAK HOSPITAL   (India)

^e NATIONAL INSTITUTE OF COMMUNICABLE DISEASES   (India)

Author keywords

46; DNA binding; primary amenorrhea; SRY gene; two sisters; XY sex reversal

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DNA BINDING; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GONADOBLASTOMA; GYNECOLOGICAL EXAMINATION; HIGH MOBILITY GROUP BOX DOMAIN; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XY; NUCLEAR LOCALIZATION SIGNAL; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN SECONDARY STRUCTURE; SEX TRANSFORMATION; SRY GENE; TRANSVAGINAL ECHOGRAPHY;

EID: 53149118216     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2007.11.062     Document Type: Article

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