Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha...

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Hlavní autoři: Miao, Zhi-Min, Wang, Can, Wang, Bin-Bin, Meng, Dong-Mei, Su, Dong-Mei, Cheng, Zhi, Wen, Qiao-Lian, Han, Lin, Yu, Qing, Ma, Xu, Li, Chang-Gui
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2011
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3142776/
https://ncbi.nlm.nih.gov/pubmed/21822432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/509549
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