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Article

Presymptomatic diagnosis of SMA III by genotype analysis.

American journal of medical genetics - 1 Feb 1993

Brahe C, Zappata S, Velonà I, Bertini E, Servidei S, Tonali P, Neri G

Abstract excerpt

Linkage analysis and prenatal prediction in families segregating autosomal recessive spinal muscular atrophy (SMA) has become feasible since the assignment of the locus responsible for type I-III SMA to region 5q12-q13.3. We have performed a segregation study of SMA in Italian families using molecular probes and highly informative PCR-based polymorphic markers. In one family, a 7-year-old boy affected with type...

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Identifiers

PMID: 8434634
DOI: 10.1002/ajmg.1320450331

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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