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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Tello, Javier A., Newton, Claire L., Bouligand, Jerome, Guiochon-Mantel, Anne, Millar, Robert P., Young, Jacques
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2012
Pynciau:
Research Article
Mynediad Ar-lein: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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