Metachromatic Leukodystrophy: Subtype Genotype/Phenotype Correlations and Identification of Novel Missense Mutations (P148L and P191T) Causing the Juvenile-Onset Disease-Reference-Cited by-同舟云学术

Metachromatic Leukodystrophy: Subtype Genotype/Phenotype Correlations and Identification of Novel Missense Mutations (P148L and P191T) Causing the Juvenile-Onset Disease

Published:1999-07 Issue:3 Volume:67 Page:206-212
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Qu Yong,Shapira Emmanuel,Desnick Robert J.

Publisher

Elsevier BV

Subject

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

Reference18 articles.

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3. Cloning and expression of human arylsulfatase A;Stein;J Biol Chem,1989

4. Structure of the arylsulfatase A gene;Kreysing;Eur J Biochem,1990

5. Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and of nine novel point mutations in the arylsufatase A gene;Draghia;Hum Mutat,1997

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1. Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum;Journal of Molecular Neuroscience;2020-11-13

2. A closer look at ARSA activity in a patient with metachromatic leukodystrophy;Molecular Genetics and Metabolism Reports;2019-06

3. Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder;Genetics and Molecular Biology;2017-11-06

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

5. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy;Neurology;2012-09-19