Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Nov 1993

Whittle M R, Zatz M, Reinach F C

Abstract excerpt

1. Five Brazilian families referred to us with a probable diagnosis of chronic proximal spinal muscular atrophy (Kugelberg-Welander) were identified, and permanent (Epstein Barr virus transformed) cell lines were established from members of four of the families. 2. A genetic linkage study was carried out on 70 individuals using nine polymorphic DNA markers (eight RFLP and one microsatellite) from chromosome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Alleles
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Markers

Share to Genotype

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 7907903

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy.PMID 7907903Read ↗

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.Semantic proximity Read ↗

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.Semantic proximity Read ↗

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.Semantic proximity Read ↗

Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.Semantic proximity Read ↗

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.Semantic proximity Read ↗

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.Semantic proximity Read ↗

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

Genotyping of spinal muscular atrophy families with linked DNA probes.Semantic proximity Read ↗

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.