Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.
By the principle of identity by descent, parental consanguinity in individuals with rare recessively transmitted disorders dictates homozygosity not just at the mutated disease-associated locus but also at sequences that flank that locus closely. In 25 of 26 individuals with Bloom syndrome examined...
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| Publicat a: | Proc Natl Acad Sci U S A |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
1994
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44264/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8022833/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.14.6669 |
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