ArticleAmerican journal of human genetics1994
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).
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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Who cites it
11 citing papers in PubMed, 59 citations in OpenAlex.
- Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation.Cancer research · 2016Article
- Linkage disequilibrium mapping identifies a 390 kb region associated with CYP2D6 poor drug metabolising activity.The pharmacogenomics journal · 2002Article
- Complete inactivation of the TSC2 gene leads to formation of hamartomas.American journal of human genetics · 1999Article
- Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.American journal of human genetics · 1998Article
- Mutation detection in the repeated part of the PKD1 gene.American journal of human genetics · 1997Article
- Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.American journal of human genetics · 1997Article
- Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.The Journal of clinical investigation · 1997Article
- Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.American journal of human genetics · 1996Article
- Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.American journal of human genetics · 1996Article
- Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.American journal of human genetics · 1995Article
- Haplotype analysis in autosomal dominant polycystic kidney disease.Journal of medical genetics · 1995Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
The gene for autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6prox). This region is 750 kb long and has been cloned. We have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scottish families that had previously shown association with D16S94, a marker proximal to the PKD1 region. We report significant association between two CA repeat markers and the disease but have not found evidence for a single founder haplotype in these families, indicating the presence of several mutations in this population. Our results favor a location of the PKD1 gene in the proximal part of the candidate region.
Indexed as
Identifiers
8037213PMC1918359W1535161356What 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.