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Article

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

Genetic testing - 1 Jan 2001

Wang Z H, Zeng B, Pastores G M, Raksadawan N, Ong E, Kolodny E H

Abstract excerpt

Among Ashkenazi Jewish individuals with mucolipidosis IV (ML IV), two mutations in the ML IV gene, IVS3-1A --> G and delEX1-EX7, account for more than 95% of disease alleles. The reported method of genotyping for the delEX1-EX7 mutation involves a cumbersome multistep procedure. In the present study, a new simplified one-step procedure is described that detects this mutation in both patients and carriers. An...

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Identifiers

PMID: 11551108
DOI: 10.1089/109065701753145529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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