Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1

BACKGROUND: Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. METHODS: Two unrela...

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Detalhes bibliográficos
Main Authors: Li, Guo-min, Xu, Hong, Shen, Qian, Gong, Yi-nv, Fang, Xiao-yan, Sun, Li, Liu, Hai-mei, An, Yu
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4080780/
https://ncbi.nlm.nih.gov/pubmed/24934730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-15-92
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