Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria-Reference-Cited by-同舟云学术

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Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria

Published:2001-11 Issue:3 Volume:74 Page:314-321
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Coulter-Mackie Marion B.,Rumsby Gillian,Applegarth Derek A.,Toone Jennifer R.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. Primary hyperoxaluria;Danpure,2001

2. Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity;Danpure;J Inherit Metab Dis,1994

3. Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway;Motley;J Cell Biol,1995

4. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase;Purdue;Genomics,1991

5. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1;Purdue;J Cell Biol,1990

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1. Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients;Frontiers in Genetics;2023-04-17

2. Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1;BMC Medical Genomics;2021-06-03

3. A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population;The Tohoku Journal of Experimental Medicine;2018

4. Molecular basis of primary hyperoxaluria and strategies for diagnosis;Expert Opinion on Orphan Drugs;2015-04-12

5. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation inAGXTand a terminal deletion of chromosome 2;American Journal of Medical Genetics Part A;2012-07-20

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