Article
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
Human genetics - 1 Jan 2000
De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez J J, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó M D, Palau F
Abstract excerpt
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.