Friedreich’s Ataxia: Phenotype and Genotype in Eleven Patients
Introduction:- Friedreich’s ataxia is anautosomal recessive disease due to a mutationin gene X25. This gene codes for frataxin and itis located on chromosome 9. The disease iscaused by a triplet particular sequence of bases(GAA). Normally, the GAA sequence is repeated 7 to 22 times, but in people wi...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad Colegio Mayor Nuestra Señora del Rosario
2006-06-01
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| Series: | Revista Ciencias de la Salud |
| Subjects: | |
| Online Access: | http://www.urosario.edu.co/medicina/CienciasSalud/documentos/vol4n1/02_fenogenotipo_vol4n1.pdf |