Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations

Rare cases of 9 complete androgen insensitivity syndromes, 9 cases of partial androgen insensitivity syndromes and equal number of male control samples were selected for this study. Few strong variations in clinical features were noticed; Giemsa banded metaphase revealed a 46,XY karyotype and the fr...

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Veröffentlicht in:	Clinica chimica acta 2016-01, Vol.453, p.123-130
Hauptverfasser:	V G, Abilash, S, Radha, K M, Marimuthu, K, Thangaraj, S, Arun, S, Nishu, A, Mohana Priya, J, Meena, D, Anuradha
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Androgen insensitivity syndrome Androgen receptor gene Androgen-Insensitivity Syndrome - genetics Asian Continental Ancestry Group - genetics Base Sequence Child Child, Preschool Cohort Studies Computational Biology Computer Simulation Cytogenetic Analysis DNA Mutational Analysis DNA-binding domain Female Humans Ligand binding domain Male Middle Aged Mutation Pedigree Phenotype Polymerase chain reaction (PCR) Receptors, Androgen - genetics Young Adult
Online-Zugang:	Volltext
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