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[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].

Genetika - 1 Jun 2000

Voskoboeva E Iu, Krasnopol'skaia K D, Peters K, von Figura K

Abstract excerpt

Molecular genetic analysis of the gene for arylsulfatase B (ASB) was conducted in ten Russian patients with type VI mucopolysaccharidosis (MPS VI) of different severity. Eight exons from the translated region of the ASB gene of each patient were amplified and sequenced using the nonradioactive method. Fourteen mutant alleles were identified in the sample studied by means of DNA analysis; 13 of them had not been...

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PMID: 10923267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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