Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant | Zendy

Jan A. F. M. Luyten | Zendy; Paul W. Wenink | Zendy; Gerry C. H. SteenbergenSpanjers | Zendy; Ron A. Wevers | Zendy; Hans Kristian Ploos van Amstel | Zendy; J.G.N. de Jong | Zendy; Lambert P.W.J. van den Heuvel | Zendy

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Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

Author(s) -

Jan A. F. M. Luyten,

Paul W. Wenink,

Gerry C. H. SteenbergenSpanjers,

Ron A. Wevers,

Hans Kristian Ploos van Amstel,

J.G.N. de Jong,

Lambert P.W.J. van den Heuvel

Publication year - 1995

Publication title -

human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.351

H-Index - 137

eISSN - 1432-1203

pISSN - 0340-6717

DOI - 10.1007/bf00210424

Subject(s) - metachromatic leukodystrophy , biology , exon , arylsulfatase a , genetics , leukodystrophy , gene , human genetics , arylsulfatase , mutation , compound heterozygosity , microbiology and biotechnology , enzyme , biochemistry , medicine , disease

Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C-->T transition.

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