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[Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jan 2018

Jin Ping, Zhang Qin, He Honghui, Zhu Weihao, Long Xiaodan, Mo Zhaohui

Abstract excerpt

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied. All exons of the SLCO2A1 and HPGD gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. To assess the damaging effects of missense mutations in silico, the online database, PolyPhen-2 and SIFT were used. We identified two homozygous mutations in SLCO2A1 gene:...

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Identifiers

PMID: 30154299
DOI: 10.11817/j.issn.1672-7347.2018.01.016

Genes

HPGD

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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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