Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

FARAFARA Cure FA

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia

Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented later than predicted from their allele size alone, when compared with a large cohort of FA patients.

Read More: Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings ...

About the Author

Jen Farmer

Jen Farmer

Executive Director

SHARE

FacebookTwitterLinkedInYoutube
Event I.jpg

 

Archived in
  Scientific News


 

 

Tagged in
FARA Scientific News