The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.

Sharma, Rajesh; Bhatti, Saeeda; Gomez, Mariluz; Clark, Rhonda M; Murray, Cynthia; Ashizawa, Tetsuo; Bidichandani, Sanjay I

Sharma, Rajesh; Bhatti, Saeeda; Gomez, Mariluz; Clark, Rhonda M; Murray, Cynthia; Ashizawa, Tetsuo; Bidichandani, Sanjay I.

Affiliation

Sharma R; Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City 73104, USA.

Hum Mol Genet ; 11(18): 2175-87, 2002 Sep 01.

Article in En | MEDLINE | ID: mdl-12189170

Subject(s)

Friedreich Ataxia/genetics; Trinucleotide Repeats/genetics; DNA/metabolism; Humans; Iron-Binding Proteins/genetics; Leukocytes/metabolism; Mutation; Polymerase Chain Reaction; Trinucleotide Repeat Expansion/genetics; Frataxin

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Collection: 01-internacional Database: MEDLINE Main subject: Friedreich Ataxia / Trinucleotide Repeats Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2002 Type: Article Affiliation country: United States

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