Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

@article{Aittomki1995MutationIT,
  title={Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure},
  author={Kristiina Aittom{\"a}ki and Jos{\'e}Luis Dieguez Lucena and Pirjo Pakarinen and Pertti Sistonen and Juha S. Tapanainen and J{\"o}rg Gromoll and Riitta Kaskikari and Eeva-Marja Kaarina Sankila and Heikki Lehv{\"a}slaiho and Armando Reyes Engel and Eberhard Nieschlag and Ilpo T Huhtaniemi and Albert de la Chapelle},
  journal={Cell},
  year={1995},
  volume={82},
  pages={959-968}
}
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 transition in exon 7 of FSHR predicting an Ala to Val substitution at residue 189 in the… Expand
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TLDR
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TLDR
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