| Autor: |
Rasheed, B. K. Ahmed, Bigner, Sandra H. |
| Zdroj: |
Current Opinion in Neurology & Neurosurgery; December 1991, Vol. 4 Issue: 6 p869-874, 6p |
| Abstrakt: |
The gene for von Recklinghausen neurofibromatosis [(NF)-1] has been cloned and evidence is accumulating that the NF-1 protein plays a role in the regulation of Ras protein function. Germ line mutations in the p53 gene were detected in family members of patients with the Li-Fraumeni syndrome, suggesting that the presence of a mutant p53 allele may be responsible for the increased risk of cancer in these families. The facioscapulohumeral muscular dystrophy locus has been assigned to 4q35-qter. In the fragile X syndrome, a breakpoint cluster region that exhibits DNA fragment length variation and hypermethylation was detected within the coding region of a candidate gene, designated fragile X mental retardation (FMR)-1] |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
