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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Main Authors: Liu, Jie, Litman, Deborah, Rosenberg, Marjorie J., Yu, Shuhua, Biesecker, Leslie G., Weinstein, Lee S.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2000
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC301417/
https://ncbi.nlm.nih.gov/pubmed/11067869
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