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Article

A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.

Journal of endocrinological investigation - 1 Apr 1996

Yokoyama M, Takeda K, Iyota K, Okabayashi T, Hashimoto K

Abstract excerpt

Mutations in the guanine nucleotide binding protein alpha subunit (Gs alpha) have been found in patients with pseudohypoparathyroidism (PHP). We have screened the Gs alpha gene for mutations in a Japanese patient with this disorder and identified a novel 4-base pair deletion in exon 7 in codons 189-190. This deletion causes a frameshift and if synthesis of a truncated form of Gs alpha occurred, it would likely be...

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PMID: 8862504
DOI: 10.1007/BF03349874

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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