Article
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.
Cell - 22 Sept 1995
Aittomäki K, Lucena J L, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E M, Lehväslaiho H, Engel A R, Nieschlag E, Huhtaniemi I, de la Chapelle A
Abstract excerpt
Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous condition that in some cases displays Mendelian recessive inheritance. By systematically searching for linkage in multiplex affected families, we mapped a locus for ODG to chromosome 2p. As the previously cloned follicle-stimulating hormone receptor (FSHR) gene had been assigned to 2p, we searched it for mutations. A C566T...
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