ArticleHuman genetics1993
Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.
Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Cardiovascular physiology and pathophysiology in Down syndrome.Physiological research · 2022Article
- Congenital heart defects among Down's syndrome cases: an updated review from basic research to an emerging diagnostics technology and genetic counselling.Journal of genetics · 2021Review
- Molecular mechanisms of congenital heart disease in down syndrome.Genes & diseases · 2019Review
- An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.American journal of human genetics · 2012Article
- Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.American journal of medical genetics. Part A · 2012Article
- Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.Human genetics · 1994Article
- Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.American journal of human genetics · 1993Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
The COL6A1 and COL6A2 (collagen VI) gene cluster on chromosome 21 is a candidate region for defects leading to congenital heart anomalies in Down's syndrome. We report a variable number of tandem repeats (VNTR) and a restriction fragment length polymorphism (RFLP) in this gene region, detected using a COL6A1 cDNA probe. Linkage disequilibrium relationships were studied among the RFLPs of this gene cluster. The RFLP reported here shows no significant linkage disequilibrium with any others in the region. It has a polymorphism information content value of 0.27, raising the informativity of the locus.
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