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Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.
Thermolability of androgen binding was compared in fibroblasts cloned from normal female skin, skin from a subject with testicular feminization whose mutation is known to be associated with a thermolabile androgen receptor, and from the mother of the subject with testicular feminization. Seven of 28 clones studied from the mother exhibited thermolability of binding, indicating that the mutant gene that causes thermolability of binding, like the gene responsible for the normal androgen receptor, is X-linked.
PMID: 6602545 [PubMed - indexed for MEDLINE]
PMCID: PMC1685633
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Cited by 3 PubMed Central articles
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Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.
Hillier J, Jones GE, Statham HE, Witkowski JA, Dubowitz V.
J Med Genet. 1985 Apr; 22(2):100-3.
[J Med Genet. 1985]
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Reduced affinity of the androgen receptor for 5 alpha-dihydrotestosterone but not methyltrienolone in a form of partial androgen resistance. Studies on cultured genital skin fibroblasts.
Pinsky L, Kaufman M, Chudley AE.
J Clin Invest. 1985 Apr; 75(4):1291-6.
[J Clin Invest. 1985]
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An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
Sai TJ, Seino S, Chang CS, Trifiro M, Pinsky L, Mhatre A, Kaufman M, Lambert B, Trapman J, Brinkmann AO.
Am J Hum Genet. 1990 Jun; 46(6):1095-100.
[Am J Hum Genet. 1990]