The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

Brazilian Journal of Medical and Biological Research

Volumn 44, Issue 4, 2011, Pages 361-365

  Cunha, J L ^a   Soardi, F C ^a   Bernardi, R D ^a   Oliveira, L E C ^a   Benedetti, C E ^b   Guerra Junior, G ^a   Maciel Guerra, A T ^a   de Mello, M P ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b BRAZILIAN CENTER FOR RESEARCH IN ENERGY AND MATERIALS CNPEM   (Brazil)

Author keywords

Gonadal dysgenesis; HMG box; Missense mutation; Sex reversal SRY; Streak gonads; Testis determination

Indexed keywords

FOLLITROPIN; GENOMIC DNA; HUMAN MENOPAUSAL GONADOTROPIN;

ADOLESCENT; ADULT; ARTICLE; BINDING KINETICS; CASE REPORT; CHROMOSOME ANALYSIS; DNA BINDING; ELECTROPHORETIC MOBILITY; FEMALE; GENE MUTATION; GONADAL DYSGENESIS; GONADOBLASTOMA; HUMAN; HYPOGONADISM; KARYOTYPE 46,XY; PRIMARY AMENORRHEA; SEX DIFFERENTIATION DISORDER; SRY GENE; ULTRASOUND; UTERUS GROWTH;

EID: 79955432542     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2011007500017     Document Type: Article

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