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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
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 |
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