Article
Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.
The Journal of clinical endocrinology and metabolism - 1 Apr 1992
Quigley C A, Friedman K J, Johnson A, Lafreniere R G, Silverman L M, Lubahn D B, Brown T R, Wilson E M, Willard H F, French F S
Abstract excerpt
The molecular basis of androgen insensitivity was investigated in a family with the complete form of the syndrome. Polymerase chain reaction amplification and Southern blot analysis of genomic DNA revealed a deletion of the entire androgen receptor (AR) gene in affected individuals. The carrier status of female members of this family was examined using a HindIII restriction fragment length polymorphism associated...
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