A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype

Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR...

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Veröffentlicht in:	Genetic testing and molecular biomarkers 2012-07, Vol.16 (7), p.749-755
Hauptverfasser:	Vasu, Vidya Rendheer, Saranya, Balachandran, Jayashankar, Meena, Munirajan, Arasambattu Kannan, Santhiya, Sathiyavedu Thyagarajan
Format:	Artikel
Sprache:	eng
Schlagworte:	46, XX Testicular Disorders of Sex Development - genetics Adolescent Adult Amino acid substitution Androgen receptors Androgens Child, Preschool DNA Mutational Analysis Ethnic groups Exons Female Fetuses Gene deletion Genetic screening Humans India Infant Introns Mutation Polymerase chain reaction Progeny Receptors, Androgen - genetics Risk factors RNA Splice Sites - genetics Spices Splicing
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