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Article

Genotyping of spinal muscular atrophy families with linked DNA probes.

Clinical genetics - 1 Dec 1992

Gennarelli M, Melchionda S, Fattorini C, Novelli G, Dallapiccola B

Abstract excerpt

We report on linkage analysis and haplotype characterization in 40 Italian families with spinal muscular atrophy (SMA). The investigated loci included D5S6, D5S112, D5S39, and D5S76. No evidence of unlinked families was found. Thirty-two (80%) of the examined families were fully informative for prenatal diagnosis and carrier detection. The frequencies of individual alleles did not differ between SMA and normal...

Topics

Adult
Alleles
Child
DNA
DNA Probes
Gene Frequency
Genetic Linkage
Genotype
Haplotypes
Humans
Lod Score
Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1362926
DOI: 10.1111/j.1399-0004.1992.tb03264.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1362926-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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