About: Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries

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About: Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries Goto Sponge NotDistinct Permalink

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scientific article published on 02 September 2005

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 2005 (uk) im September 2005 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 2005 (ast) scientific article published on 02 September 2005 (en)
publication date	wds:Q81157933-05E8009F-FCDB-491C-A438-DF4CF3693E66
publication date	2005-09-02 00:00:00Z (xsd:dateTime)
cites work	wds:Q81157933-02BA3AD9-19ED-4E5F-A339-DEBF23B5682E wds:Q81157933-0A160285-A66A-4CB3-99E9-6331C39ACBA3 wds:Q81157933-1CD22F80-9D8D-4C08-A53C-A36239FDC5B5 wds:Q81157933-2A3C8879-CFDB-4C21-9B7C-3A7E6C4F71E6 wds:Q81157933-368003B1-843B-49A9-84DE-CF5897B962FF wds:Q81157933-39764003-B133-4234-A6B1-B2B7AA71B4D7 wds:Q81157933-43041130-B938-4D9D-8A9F-1F4416F5B81B wds:Q81157933-5C286DD8-048C-430A-A1EA-AE15312F0E70 wds:Q81157933-5D896E15-92BF-4DE5-958D-F686B5FB4480 wds:Q81157933-6DAB8CDE-C10A-45F1-90E1-8CBBF2547D12 wds:Q81157933-79BFD967-AB76-4DBA-BC74-A08461C147D8 wds:Q81157933-8D6E5609-66CD-43AE-9645-8E1F7E8551AE wds:Q81157933-93FD4815-1BA5-4342-A9E1-C32340077ED2 wds:Q81157933-A105EE39-C9F6-40F9-A694-530A4721006B wds:Q81157933-AF140A74-523E-438A-884B-32FC3423E7A5 wds:Q81157933-B00C56FC-6CE7-48C0-A283-10DC024C975F wds:Q81157933-B905C6D5-843B-4BE7-BCE2-C28B46C72150 wds:Q81157933-BB5C0008-4729-4A68-86A1-671C594B8642 wds:Q81157933-D0C3876B-3E5B-4868-9A0B-78F3DD18A287 wds:Q81157933-DEBCAD70-DE00-4F8F-8AE4-812B00BAA792 wds:Q81157933-E1CC7ED4-1B23-46C6-BAA9-3434A0273916
cites work	Structure of the arylsulfatase A gene The assay of arylsulphatases A and B in human urine Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy Molecular basis of different forms of metachromatic leukodystrophy The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain Determination of gangliosides and sulfatide in human cerebrospinal fluid with a microimmunoaffinity technique Characterization of the binding epitope of a monoclonal antibody to sulphatide Molecular Genetics of Metachromatic Leukodystrophy Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100 A simple chromogenic assay for arylsulfatase A Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations 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. Can a place of origin of the main cystic fibrosis mutations be identified? Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers
author name string	wds:Q81157933-0C278E7A-E12C-4894-A2E1-31835F52BC3A wds:Q81157933-0D6CF762-0F0C-4E96-9B22-3A63A8BA3E6E wds:Q81157933-10774890-BD0A-414A-A7D3-ED8D88A1A09C wds:Q81157933-1C4B8755-D36E-42A4-9A25-6753DA21CBB4 wds:Q81157933-275AAEEA-740E-4804-BE15-EBD0DD880B60 wds:Q81157933-28D51653-2291-43E7-974B-27F24829AB2A wds:Q81157933-43849763-07D3-4A3C-A3C4-3B914863B2FD wds:Q81157933-43F7A48B-C844-4E32-A435-23157BAAC7F6 wds:Q81157933-5A375104-E984-40DF-9E90-5567F1487F5A wds:Q81157933-6CA67124-F7AB-4617-9E81-E026AB8499F2 wds:Q81157933-7AB2DA1B-F8A1-41A2-A241-FDC448342CB4 wds:Q81157933-8C288D81-440E-4996-8DD6-306D7D3C5897 wds:Q81157933-B9378792-9DF9-49BD-8BF6-077304B150DE
author name string	Willy Lissens Jan-Eric Mansson Volkmar Gieselmann Helen Michelakakis Stefano Regis Richard Sinke Barbara Czartoryska Amparo Chabas Hanno Bernheimer Nils U Bosshard Ana Marcao Anthony Fensom Natalia V Ol'khovych
rdfs:label	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (en) Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (nl)
skos:prefLabel	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (en) Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (nl)
name	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (en) Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (nl)
author	wds:Q81157933-49E65408-6DE1-453A-B8F3-FFC1E3B35DA0 wds:Q81157933-669E9E8B-FA5E-4A8B-81E0-40A8F6C0BD31 wds:Q81157933-9B1DF20E-0045-4BFB-B245-38557EEDEA00 wds:Q81157933-A6C7954E-3FE8-406E-8771-75B5FB7C65EF wds:Q81157933-DA182CCC-80CB-4314-90AC-E15132B7B333 wds:Q81157933-F4AAA961-9A44-4C48-B0CE-7A492FD39EFF
author	Johannes Berger Anna Tylki-Szymańska Agnieszka Ługowska Olga Amaral Natalia G. Gorovenko Linda Berná
title	wds:Q81157933-0DCD0827-AE7D-4F5A-BC67-3246F1D690C5
title	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries (en)
page(s)	wds:Q81157933-2989EAF8-5119-4A0C-B97B-64C23BD852BE
page(s)	353-359
instance of	wds:Q81157933-F6ED54E1-6CD0-4387-B391-576EB37B05CD
instance of	scholarly article

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