Common mutation underlying primary hyperoxaluria type1 in three Indian children

Primary hyperoxaluria is an autosomal recessive disorder caused by deficiency of alanine-glyoxylate aminotransferase, which is encoded by the AGXT gene. We report three Indian children with primary hyperoxaluria type1 having a common mutation in this gene. All patients had evidence of chronic kidney...

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Detalles Bibliográficos
Autores principales: Chanchlani, R., Sinha, A., Gulati, A., Agarwal, V., Bagga, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573489/
https://www.ncbi.nlm.nih.gov/pubmed/23439734
http://dx.doi.org/10.4103/0971-4065.106044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573489/
https://www.ncbi.nlm.nih.gov/pubmed/23439734
http://dx.doi.org/10.4103/0971-4065.106044

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