| Autor: |
Munroe PB; Department of Paediatrics, University College London Medical School, Rayne Institute, UK., O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE |
| Jazyk: |
angličtina |
| Zdroj: |
Neuropediatrics [Neuropediatrics] 1997 Feb; Vol. 28 (1), pp. 15-7. |
| DOI: |
10.1055/s-2007-973657 |
| Abstrakt: |
A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. We define two mutations found uniquely in Finnish patients, one a large deletion (2.8 kb), the other a point mutation affecting the 5'splice donor site of an intron. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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