| Autor: |
Terrett, J. A., Newbury-Ecob, R., Smith, N. M., Li, Q. Y., Garrett, C., Cox, P., Bonnet, D., Lyonnet, S., Munnich, A., Buckler, A. J., John David Brook |
| Jazyk: |
angličtina |
| Rok vydání: |
1996 |
| Předmět: |
|
| Zdroj: |
Scopus-Elsevier |
| Popis: |
A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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