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-Reference-Cited by-同舟云学术

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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

Published:2003-06 Issue:2 Volume:79 Page:91-98
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Coulter-Mackie M

Publisher

Elsevier BV

Subject

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

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Candidate variants in MLC1 gene causing Megalencephalic Leukodystrophy using in silico prediction methods;International Journal of Molecular Biology;2018-03-01

2. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells;Human Mutation;2017-09-06

3. Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles;Molecular Genetics and Metabolism Reports;2017-09

4. Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro;Human Mutation;2016-01-12

5. Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy;Human Mutation;2015-11-04

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