| Autor: |
Chen, D -H., Cimino, P J., Ranum, L P.W., Zoghbi, H Y., Yabe, I, Schut, L, Margolis, R L., Lipe, H P., Feleke, A, Matsushita, M, Wolff, J, Morgan, C, Lau, D, Fernandez, M, Sasaki, H, Raskind, W H., Bird, T D. |
| Zdroj: |
Neurology (Ovid); April 2005, Vol. 64 Issue: 7 p1258-1260, 3p |
| Abstrakt: |
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCGin patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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