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Start Over Author "Elawady M" Journal american journal of human genetics

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1. Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.

Author

Elawady MK, Allman DR, Griffin JE, and Wilson JD

Subjects
Adolescent, Adult, Child, Clone Cells metabolism, Estrenes metabolism, Female, Fibroblasts metabolism, Genes, Heterozygote, Hot Temperature, Humans, Infant, Male, Metribolone, Mutation, X Chromosome physiology, Androgen-Insensitivity Syndrome genetics, Receptors, Androgen metabolism, Receptors, Steroid metabolism
Abstract

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.

Published
1983

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