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Article

Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 1994

Ben-Yoseph Y, Mitchell D A

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Share to Cerebroside-Sulfatase
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Share to DNA Restriction Enzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Leukodystrophy, Metachromatic

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Identifiers

PMID: 7915220
DOI: 10.1016/0009-8981(94)90104-x

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Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers.PMID 7915220Read ↗

Identification of seven novel mutations associated with metachromatic leukodystrophy.Semantic proximity Read ↗

A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy.Semantic proximity Read ↗

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.Semantic proximity Read ↗

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.Semantic proximity Read ↗

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.Semantic proximity Read ↗

A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.Semantic proximity Read ↗

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Metachromatic leukodystrophy: Disease spectrum and approaches for treatmentSemantic proximity Read ↗

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.Semantic proximity Read ↗

Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

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

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