High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus

Acta Myologica

Volumn 28, Issue 1, 2009, Pages 24-26

  Zamba Papanicolaou, E ^a   Koutsou, P ^a   Daiou, C ^a   Gaglia, E ^a   Georghiou, A ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Friedreich's ataxia; GAA repeat expansion; High carrier frequency; Population screening

Indexed keywords

FRATAXIN;

ARTICLE; BLOOD SAMPLING; CYPRUS; DISEASE CARRIER; FRIEDREICH ATAXIA; GENE FREQUENCY; GENE MUTATION; MOLECULAR GENETICS;

ADULT; AGED; AGED, 80 AND OVER; CYPRUS; FRIEDREICH ATAXIA; GENETIC TESTING; HETEROZYGOTE; HUMANS; INTRONS; IRON-BINDING PROTEINS; MIDDLE AGED; MUTATION; PREVALENCE; TRINUCLEOTIDE REPEATS; YOUNG ADULT;

EID: 70349484957     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

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2. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
3. Bouchard JP, Barbeau A, Bouchard R, et al. A cluster of Friedreich's ataxia in Rimouski, Quebec. Can J Neurol Sci 1979;6:205-208 (Pubitemid 9187731)
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5. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
6. Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560 (Pubitemid 26269033)