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Publications by G Rumsby
Primary Hyperoxaluria Type 1: A Cluster of New Mutations in Exon 7 of the AGXT Gene.
Journal of Medical Genetics
Genetics
Deletion of the 21-Hydroxylase Gene in Congenital Adrenal Hyperplasia
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Identification of Mutations Associated With Peroxisome-To-Mitochondrion Mistargeting of Alanine/Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1
Journal of Cell Biology
Medicine
Cell Biology
Primary Hyperoxaluria Type 3
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
Medicine
Nephrology
Late Diagnosis of Primary Hyperoxaluria Type III
Annals of Clinical Biochemistry
Medicine
Clinical Biochemistry
Progressive Polyradiculoneuropathy Due to Intraneural Oxalate Deposition in Type 1 Primary Hyperoxaluria
Muscle and Nerve
Molecular Neuroscience
Neurology
Physiology
Cellular
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
Biochemistry
Cell Biology
Molecular Biology
Calcified Nodules on Fingers in Primary Hyperoxaluria Type 2
The Lancet Diabetes and Endocrinology
Internal Medicine
Endocrinology
Metabolism
Diabetes
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
Medicine
Cell Biology
Molecular Insights Into Primary Hyperoxaluria Type I Pathogenesis
Frontiers in Bioscience - Landmark
Immunology
Molecular Biology
Biochemistry
Microbiology
Medicine
Genetics
