Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease

Primary hyperoxaluria type 1 is an autosomal recessive inborn error of metabolism due to liver-specific peroxisomal enzyme alanine-glyoxylate transaminase deficiency. Here, we describe two unrelated patients who were diagnosed to have primary hyperoxaluria. Homozygous c.445_452delGTGCTGCT (p.L151Nfs...

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Detalhes bibliográficos
Publicado no:Indian J Nephrol
Main Authors: Dutta, A. K., Paulose, B. K., Danda, S., Alexander, S., Tamilarasi, V., Omprakash, S.
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4964691/
https://ncbi.nlm.nih.gov/pubmed/27512303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-4065.171244
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