A novel missense mutation (L198R) in the Friedreich's ataxia gene.

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Al-Mahdawi S, Pook M, Chamberlain S

A novel missense mutation (L198R) in the Friedreich's ataxia gene.

Hum Mutat. 2000 Jul;16(1):95.

PubMed ID
10874325 [ View in PubMed
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Abstract

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Polypeptides
NameUniProt ID
Frataxin, mitochondrialQ16595Details