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A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
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A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. Muscle Nerve. 1998 Mar; 21(3):390-3.
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PubMed
subject areas
Adult
Adult
Biopsy
Biopsy
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 17
Electrophysiology
Electrophysiology
Female
Female
Friedreich Ataxia
Friedreich Ataxia
Genetic Carrier Screening
Genetic Carrier Screening
Homozygote
Homozygote
Humans
Humans
Introns
Introns
Iron-Binding Proteins
Iron-Binding Proteins
Lymphocytes
Lymphocytes
Male
Male
Mosaicism
Mosaicism
Multiple Sclerosis
Multiple Sclerosis
Nerve Fibers, Myelinated
Nerve Fibers, Myelinated
Pedigree
Pedigree
Peripheral Nerves
Peripheral Nerves
Phosphotransferases (Alcohol Group Acceptor)
Phosphotransferases (Alcohol Group Acceptor)
Polymerase Chain Reaction
Polymerase Chain Reaction
Sural Nerve
Sural Nerve
Trinucleotide Repeats
Trinucleotide Repeats
authors with profiles
Sanjay I Bidichandani