| Autor: |
Illarioshkin, S. N., Allen, Kristina M., Gleeson, Joseph G., Tsuji, Shoji, Ikeuchi, Takeshi, Markova, Elena D., Walsh, Christopher A., Ivanova-Smolenskaya, Irina A. |
| Zdroj: |
Journal of Neurology; Dec1999, Vol. 246 Issue 12, p1177-1180, 4p |
| Abstrakt: |
A gene for X-linked congenital cerebellar hypoplasia was recently localized to chromosome Xp11.21-q24. This region comprises several brain-specific genes responsible for various neurological disorders, including the proteolipid protein ( PLP), doublecortin, and PAK3 genes. We screened these genes for mutations in patients with X-linked congenital cerebellar hypoplasia and found no pathogenic nucleotide changes or gene dose alterations. These findings allow the ruling out of PLP, doublecortin, and PAK3 as the disease-causing genes in this hereditary neurological syndrome. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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