A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.

@article{Lumbroso1993ANM,
  title={A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.},
  author={Serge Lumbroso and Jean Marc A Lobaccaro and Ch Belon and D. Chris Martin and Jean Louis Chaussain and Ch Sultan},
  journal={Fertility and sterility},
  year={1993},
  volume={60 5},
  pages={814-9}
}
OBJECTIVE To study the androgen receptor gene in a large kindred with complete androgen insensitivity syndrome and positive receptor-binding activity. DESIGN Enzymatic amplification coupled with single strand conformation polymorphism and DNA sequencing were used. RESULTS In all the affected members, single strand conformation polymorphism showed a mobility shift in exon 2, suggesting a sequence alteration. Sequencing identified a valine into phenylalanine substitution at position 581 in… CONTINUE READING
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