Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia

2000 ◽  
Vol 106 (4) ◽  
pp. 455-458 ◽  
Author(s):  
Roberto Colombo ◽  
Anna Carobene
Keyword(s):  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion ◽  
Repeat Expansion Mutation ◽  
Expansion Mutation

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

1997 ◽  
Vol 41 (5) ◽  
pp. 675-682 ◽  
Author(s):  
Laura Montermini ◽  
Andrea Richeter ◽  
Kenneth Morgan ◽  
Cristina M. Justice ◽  
Dominique Julien ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion

scholarly journals Role of Mismatch Repair Enzymes in GAA·TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells

2012 ◽  
Vol 287 (35) ◽  
pp. 29861-29872 ◽  
Author(s):  
Jintang Du ◽  
Erica Campau ◽  
Elisabetta Soragni ◽  
Sherman Ku ◽  
James W. Puckett ◽  
...  
Keyword(s):  
Stem Cells ◽  
Mismatch Repair ◽  
Pluripotent Stem Cells ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion ◽  
Repair Enzymes ◽  
Induced Pluripotent

scholarly journals GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Genomics ◽  
2006 ◽  
Vol 88 (5) ◽  
pp. 580-590 ◽  
Author(s):  
Sahar Al-Mahdawi ◽  
Ricardo Mouro Pinto ◽  
Dhaval Varshney ◽  
Lorraine Lawrence ◽  
Margaret B. Lowrie ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Mouse Models ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Cardiac Pathology ◽  
Repeat Expansion Mutation ◽  
Gaa Repeat Expansion ◽  
Expansion Mutation
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