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 - United States
doi 10.1681/asn.2006111230
Full Text
Abstract

Available in full text

Date
Authors
Publisher

American Society of Nephrology (ASN)

Related search

Late Diagnosis of Primary Hyperoxaluria Type III

Annals of Clinical Biochemistry
MedicineClinical Biochemistry
2017English

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

Journal of Medical Genetics
Genetics
1997English

Primary Hyperoxaluria Type 3

2020English

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
2005English

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

Muscle and Nerve
Molecular NeuroscienceNeurologyPhysiologyCellular
2015English

Calcified Nodules on Fingers in Primary Hyperoxaluria Type 2

The Lancet Diabetes and Endocrinology
Internal MedicineEndocrinologyMetabolismDiabetes
2016English

A Mutation Creating an Out-Of-Frame Alternative Translation Initiation Site in theGRHPR5′UTR Causing Primary Hyperoxaluria Type II

Clinical Genetics
Genetics
2014English

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

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