Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.

@article{Laue1996CompoundHM,
  title={Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.},
  author={Louisa L. Laue and S. M. Wu and Masataka Kudo and Carlos J Bourdony and Gordon B. Cutler and Aaron J Hsueh and Wai Yee Chan},
  journal={Molecular endocrinology},
  year={1996},
  volume={10 8},
  pages={987-97}
}
The human LH receptor (hLHR) is a member of the G protein-coupled receptors characterized by the presence of seven-transmembrane (TM) helices. Inactivating mutations of the hLHR lead to Leydig cell hypoplasia (LCH), a form of male pseudohermaphroditism resulting from the failure of fetal testicular Leydig cell differentiation. We have identified three mutations of the hLHR in a patient with LCH: deletion of exon 8 (delta Exon 8), A872G transition resulting in Asn291Ser substitution in the… CONTINUE READING
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