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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 559-561 |
| Number of pages | 3 |
| Journal | Journal of medical genetics |
| Volume | 33 |
| Issue number | 7 |
| State | Published - Jul 25 1996 |
| Externally published | Yes |
Keywords
- Chromosome 9q
- Polymorphism
- TSC1
- Tuberous sclerosis complex (TSC)
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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Cite this
Au, K. S., Murrell, J., Buckler, A., Blanton, S. H., & Northrup, H. (1996). Report of a critical recombination further narrowing the TSC1 region. Journal of medical genetics, 33(7), 559-561.