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Title: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.

Human cell - 6 Jan 2025

Yan Xiang, Xu Zihao, Chen Yue, Gao Langping, Jiang Zige, Liu Lexin, Wang Guozhen, Chen Xiangjun, Wu Chengpeng, Hu Lidan

Abstract excerpt

This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.Val289fsTer22. The intron 2/3 variant (c.214-2 T > G) is a novel finding and is reported for the first time. These...

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PMID: 39757298
DOI: 10.1007/s13577-024-01169-5

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Title: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.PMID 39757298Read ↗

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