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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Main Authors: Yi-Lei Wu, Daw-Yang Hwang, Hui-Pin Hsiao, Wei-Hsin Ting, Chi-Yu Huang, Wen-Yu Tsai, Hung-Chun Chen, Mei-Chyn Chao, Fu-Sung Lo, Jeng-Daw Tsai, Stone Yang, Shin-Lin Shih, Shuan-Pei Lin, Chiung-Ling Lin, Yann-Jinn Lee
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3961212?pdf=render