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Article

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

The Journal of clinical investigation - 1 Nov 2000

Liu J, Litman D, Rosenberg M J, Yu S, Biesecker L G, Weinstein L S

Abstract excerpt

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)alpha, the G protein alpha-subunit required for receptor-...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11067869
DOI: 10.1172/JCI10431
PMCID: PMC301417

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11067869-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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