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Article

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

American journal of human genetics - 1 Sept 1999

Slaugenhaupt S A, Acierno J S, Helbling L A, Bove C, Goldin E, Bach G, Schiffmann R, Gusella J F

Abstract excerpt

Mucolipidosis type IV (MLIV) is a lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. It is a rare autosomal recessive disease, and the majority of patients diagnosed, to date, are of Ashkenazi Jewish descent. We have mapped the MLIV gene to chromosome 19p13.2-13.3 by linkage analysis with 15 markers in 13 families. A maximum LOD score of 5.51 with no recombinants was...

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Share to Chromosomes, Human, Pair 19
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10441585
DOI: 10.1086/302549
PMCID: PMC1377985

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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