Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to progress normally through puberty. Mutations in the gene encoding the GnRH receptor (GNRHR1) result in CHH when present as compound heterozygous or homozygous inactivating mutations. This study identi...

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Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Tello, Javier A., Newton, Claire L., Bouligand, Jerome, Guiochon-Mantel, Anne, Millar, Robert P., Young, Jacques
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2012
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3367945/
https://ncbi.nlm.nih.gov/pubmed/22679506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038456
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