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Article

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.

Genomics - 1 May 1994

Mérette C, Brzustowicz L M, Daniels R J, Davies K E, Gilliam T C, Melki J, Munnich A, Pericak-Vance M A, Siddique T, Voosen B

Abstract excerpt

We performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the disease (Types II or III). Markers for six loci encompassing the chromosome 5q11.2-q13.3 region were typed. The best map location for the disease locus was found to be between D5S6 and MAP1B. The corresponding 1 lod unit support intervals is confined to...

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Identifiers

PMID: 8088801
DOI: 10.1006/geno.1994.1220

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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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An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.PMID 8088801Read ↗

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A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.Semantic proximity Read ↗

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