Report of a critical recombination further narrowing the TSC1 region. Issue 7 (July 1996)

• Record Type: Journal Article
• Authors: Au, K S; Murrell, J; Buckler, A; Blanton, S H; Northrup, H
• Is Part Of: Journal of medical genetics. Volume 33:Issue 7(1996)
• Page Start: 559
• Page End: 561
• Publication Date: 1996-07
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.7.559
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeric end of the critical region, which contains three genes and three to four additional exons for which the associated genes have not been delineated. This information serves to further the search for the TSC1 gene.