A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone (PTH) and the absence of other endocrine or physical abnormalities. Familial PHPIB has been mapped to 20q13, near GNAS1, which encodes G(s)α, the G protein α-subunit required for receptor-stimulated...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Liu, Jie, Litman, Deborah, Rosenberg, Marjorie J., Yu, Shuhua, Biesecker, Leslie G., Weinstein, Lee S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2000
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC301417/
https://ncbi.nlm.nih.gov/pubmed/11067869
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