Primary Hyperoxaluria Type 1: A Cluster of New Mutations in Exon 7 of the AGXT Gene.

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.34.6.489
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

Identification of Mutations Associated With Peroxisome-To-Mitochondrion Mistargeting of Alanine/Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1

Journal of Cell Biology
MedicineCell Biology
1990English

Primary Hyperoxaluria Type 3

2020English

Comprehensive Mutation Screening in 55 Probands With Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis

Journal of the American Society of Nephrology : JASN
MedicineNephrology
2007English

Late Diagnosis of Primary Hyperoxaluria Type III

Annals of Clinical Biochemistry
MedicineClinical Biochemistry
2017English

Progressive Polyradiculoneuropathy Due to Intraneural Oxalate Deposition in Type 1 Primary Hyperoxaluria

Muscle and Nerve
Molecular NeuroscienceNeurologyPhysiologyCellular
2015English

Four of the Most Common Mutations in Primary Hyperoxaluria Type 1 Unmask the Cryptic Mitochondrial Targeting Sequence of Alanine:glyoxylate Aminotransferase Encoded by the Polymorphic Minor Allele

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
2012English

Calcified Nodules on Fingers in Primary Hyperoxaluria Type 2

The Lancet Diabetes and Endocrinology
Internal MedicineEndocrinologyMetabolismDiabetes
2016English

Inhibition of Alanine:glyoxylate Aminotransferase 1 Dimerization Is a Prerequisite for Its Peroxisome-To-Mitochondrion Mistargeting in Primary Hyperoxaluria Type 1

Journal of Cell Biology
MedicineCell Biology
1996English

Molecular Insights Into Primary Hyperoxaluria Type I Pathogenesis

Frontiers in Bioscience - Landmark
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2012English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy