ArticleAmerican journal of human genetics1994
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 42 citations in OpenAlex.
- Genetic findings of Cypriot spinal muscular atrophy patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy.Genetics and molecular biology · 2013Review
- Spinal muscular atrophy genetic testing experience at an academic medical center.The Journal of molecular diagnostics : JMD · 2002Article
- The role of apoptosis in neurodegenerative diseases.Metabolic brain disease · 1998Review
- Unusual molecular findings in autosomal recessive spinal muscular atrophy.Journal of medical genetics · 1996Article
- A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.Human genetics · 1995Article
- A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.Human genetics · 1995Article
- Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.Journal of medical genetics · 1995Article
- Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.American journal of human genetics · 1995Article
- Refinement of the spinal muscular atrophy locus by genetic and physical mapping.American journal of human genetics · 1995Article
- Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.
Indexed as
Identifiers
8128967PMC1918112W1887923955What OpenQuestion holds
Registered trials
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