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

CONCLUSION: Two novel HOGA1 mutations were identified in association with PH3. This is the first description and investigation on mutant gene analysis of PH3 in an Asian.
PMID: 26340091 [PubMed - as supplied by publisher]

Source: American Journal of Nephrology - September 5, 2015 Category: Urology & Nephrology Authors: Wang X, Zhao X, Wang X, Yao J, Zhang F, Lang Y, Tuffery-Giraud S, Bottillo I, Shao L Tags: Am J Nephrol Source Type: research