ArticleAmerican journal of human genetics1994
Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.
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 13 papers.
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Who cites it
13 citing papers in PubMed, 35 citations in OpenAlex.
- Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Human core duplicon gene families: game changers or game players?Briefings in functional genomics · 2019Article
- Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.Genome research · 2003Article
- Spinal muscular atrophy.Journal of inherited metabolic disease · 1999Review
- Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.American journal of human genetics · 1998Article
- The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3.Mammalian genome : official journal of the International Mammalian Genome Society · 1998Article
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.American journal of human genetics · 1997Article
- Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.American journal of human genetics · 1996Article
- Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.American journal of human genetics · 1996Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
- Gene deletions in spinal muscular atrophy.Journal of medical genetics · 1996Article
- Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.Journal of medical genetics · 1995Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Childhood-onset proximal spinal muscular atrophy (SMA) is a heritable neurological disorder, which has been mapped by genetic linkage analysis to chromosome 5q13, in the interval between markers D5S435 and D5S557. Here, we present gene sequences that have been isolated from this interval, several of which show sequence homologies to exons of beta-glucuronidase. These gene sequences are repeated several times across the candidate region and are also present on chromosome 5p. The arrangement of these repetitive gene motifs is polymorphic between individuals. The high degree of variability observed may have some influence on the expression of the genes in the region. Since SMA is not inherited as a classical autosomal recessive disease, novel genomic rearrangements arising from aberrant recombination events between the complex repeats may be associated with the phenotype observed.
Indexed as
Identifiers
7977382PMC1918431W1553919709What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.