Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

Abstract Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and cons...

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Bibliographic Details
Main Authors: Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Nephrology
Subjects:
Primary hyperoxaluria type 1
AGT
AGXT gene
Mutation
Compound heterozygous
Online Access:http://link.springer.com/article/10.1186/s12882-017-0719-y

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http://link.springer.com/article/10.1186/s12882-017-0719-y

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