Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of theARSA gene
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30085/fullpdf
Reference11 articles.
1. Polymorphic Markers for the Arylsulfatase A Gene Reveal a Greatly Expanded Meiotic Map for the Human 22q Telomeric Region
2. Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family
3. Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele
4. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
5. Molecular genetics of metachromatic leukodystrophy
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1. Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases;Biomedicines;2022-07-29
2. Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis;Frontiers in Neurology;2021-01-11
3. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives;Molecular Genetics and Metabolism Reports;2020-12
4. Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy;Human Mutation;2015-11-04
5. Lysosomal Storage Diseases;Swaiman's Pediatric Neurology;2012
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