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Article

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

Human molecular genetics - 1 Aug 1995

Wirth B, Hahnen E, Morgan K, DiDonato C J, Dadze A, Rudnik-Schöneborn S, Simard L R, Zerres K, Burghes A H

Abstract excerpt

The candidate region for spinal muscular atrophy (SMA) has been defined as a 750 kb interval on 5q13. In this study, we performed allelic association studies in 154 German SMA families with the multicopy markers Ag1-CA (D5S1556); C212 (D5F149S1/S2) and correlated genotype data with deletion of candidate genes. Both multicopy markers recognize 0-3 alleles pro chromosome. Deletions were detected for all copies of...

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Identifiers

PMID: 7581364
DOI: 10.1093/hmg/4.8.1273

Genes

NAIP

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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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