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...

Full description

Saved in:
Bibliographic Details
Main Authors: Liu, Jie, Litman, Deborah, Rosenberg, Marjorie J., Yu, Shuhua, Biesecker, Leslie G., Weinstein, Lee S.
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2000
Subjects:
Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC301417/
https://ncbi.nlm.nih.gov/pubmed/11067869
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items