A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. [electronic resource]
Producer: 19980313Description: 390-3 p. digitalISSN:- 0148-639X
- Adult
- Biopsy
- Chromosomes, Human, Pair 17
- Electrophysiology -- methods
- Female
- Friedreich Ataxia -- genetics
- Genetic Carrier Screening
- Homozygote
- Humans
- Introns
- Iron-Binding Proteins
- Lymphocytes -- physiology
- Male
- Mosaicism
- Multiple Sclerosis -- genetics
- Nerve Fibers, Myelinated -- pathology
- Pedigree
- Peripheral Nerves -- physiology
- Phosphotransferases (Alcohol Group Acceptor) -- genetics
- Polymerase Chain Reaction
- Sural Nerve -- pathology
- Trinucleotide Repeats
- Frataxin
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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