Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

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Citation

Bidichandani SI, Ashizawa T, Patel PI

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

Am J Hum Genet. 1997 May;60(5):1251-6.

PubMed ID
9150176 [ View in PubMed
]
Abstract

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Polypeptides
NameUniProt ID
Frataxin, mitochondrialQ16595Details