Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.

doi:10.1056/NEJM199410203311604

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Article

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.

The New England journal of medicine - 20 Oct 1994

Smith E P, Boyd J, Frank G R, Takahashi H, Cohen R M, Specker B, Williams T C, Lubahn D B, Korach K S

Abstract excerpt

BACKGROUND AND METHODS: Mutations in the estrogen-receptor gene have been thought to be lethal. A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal e...

Topics

Adult
Base Sequence
Codon
Drug Resistance
Estrogens
Humans
Male
Molecular Sequence Data
Mutation
Osteoporosis
Pedigree
Polymerase Chain Reaction
Receptors, Estrogen

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