A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient-Reference-Cited by-同舟云学术

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

Published:2008-06-28 Issue:1 Volume:52 Page:65-67
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Regis Stefano,Filocamo Mirella,Stroppiano Marina,Corsolini Fabio,Gatti Rosanna

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02518.x/fullpdf

Reference10 articles.

1. The assay of the arylsulfatase A and B in human urine;Baum;Clin Chim Acta,1959

2. Simultaneous detection of the two most frequent metachromatic leukodys-trophy mutations;Berger;Hum Genet,1993

3. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy;Gieselmann;Hum Genet,1991

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

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

2. Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature;Journal of Child Neurology;2009-12-28

3. Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations;Developmental Medicine & Child Neurology;2006-05

4. Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity;Human Mutation;1999

5. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients;Human Mutation;1999