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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Detalles Bibliográficos
Autores principales: Tello, Javier A., Newton, Claire L., Bouligand, Jerome, Guiochon-Mantel, Anne, Millar, Robert P., Young, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3367945/
https://www.ncbi.nlm.nih.gov/pubmed/22679506
http://dx.doi.org/10.1371/journal.pone.0038456

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3367945/
https://www.ncbi.nlm.nih.gov/pubmed/22679506
http://dx.doi.org/10.1371/journal.pone.0038456

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