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...
Gardado en:
| Publicado en: | Proc Natl Acad Sci U S A |
|---|---|
| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
1994
|
| Assuntos: | |
| Acceso en liña: | 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 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|