GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, whi...

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Detalles Bibliográficos
Autores principales: Lemos, Manuel C, Thakker, Rajesh V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2015
Materias:
Mutation Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309471/
https://www.ncbi.nlm.nih.gov/pubmed/25219572
http://dx.doi.org/10.1002/humu.22696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309471/
https://www.ncbi.nlm.nih.gov/pubmed/25219572
http://dx.doi.org/10.1002/humu.22696

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