Locus heterogeneity in Friedreich ataxia

Friedreich ataxia (FRDA) is the most common form of autosomal recessive ataxia. The disease locus was assigned to chromosome 9 and the disease gene, STM7/X25, has been isolated. To date most data suggest locus homogeneity in FRDA. We now provide strong evidence of a second FRDA locus. Studying two s...

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Veröffentlicht in:	Neurogenetics 1997-05, Vol.1 (1), p.43-47
Hauptverfasser:	Kostrzewa, M, Klockgether, T, Damian, M S, Müller, U
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing Adult Alleles Ataxia Chromosomes, Human, Pair 9 Female Frataxin Friedreich Ataxia - genetics Genetic Heterogeneity Genetic Markers Haplotypes Humans Iron-Binding Proteins Male Models, Genetic Mutation Nerve Tissue Proteins - genetics Pedigree Phosphotransferases (Alcohol Group Acceptor) - genetics Trinucleotide Repeat Expansion
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