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Article

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.

Genomics - 1 Dec 2004

Andrew Nesbit M, Bowl Michael R, Harding Brian, Schlessinger David, Whyte Michael P, Thakker Rajesh V

Abstract excerpt

X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6. We isolated the full-length AS6 cDNA, determined its genomic organization, and sought for abnormalities in HPT patient...

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Topics

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Share to High Mobility Group Proteins
Share to Chromosomes, Human, Pair 13
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

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Share to Retroviridae Proteins, Oncogenic

Share to Ribonucleoproteins, Small Nuclear

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Source

Identifiers

PMID: 15533723
DOI: 10.1016/j.ygeno.2004.08.003

Genes

SOX3
MCF2
SOX1
SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15533723-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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