Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese

An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with...

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Detalles Bibliográficos
Autores principales: Wu, Yi-Lei, Hwang, Daw-Yang, Hsiao, Hui-Pin, Ting, Wei-Hsin, Huang, Chi-Yu, Tsai, Wen-Yu, Chen, Hung-Chun, Chao, Mei-Chyn, Lo, Fu-Sung, Tsai, Jeng-Daw, Yang, Stone, Shih, Shin-Lin, Lin, Shuan-Pei, Lin, Chiung-Ling, Lee, Yann-Jinn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961212/
https://www.ncbi.nlm.nih.gov/pubmed/24651309
http://dx.doi.org/10.1371/journal.pone.0090640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961212/
https://www.ncbi.nlm.nih.gov/pubmed/24651309
http://dx.doi.org/10.1371/journal.pone.0090640

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