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Article

Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.

American journal of nephrology - 1 Jan 2015

Wang Xinsheng, Zhao Xiangzhong, Wang Xiaoling, Yao Jian, Zhang Feifei, Lang Yanhua, Tuffery-Giraud Sylvie, Bottillo Irene, Shao Leping

Abstract excerpt

BACKGROUND: Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. METHODS: A Chinese child with early-onset nephrolithiasis was suspected of having PH. We searched for AGXT, GRHPR and HOGA1 gene mutations in this patient and his parents. All coding regions,...

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Source

Identifiers

PMID: 26340091
DOI: 10.1159/000439232

Genes

HOGA1
AGXT
GRHPR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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