Missense mutation (I143T) in a Japanese patient with Canavan disease.

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Kobayashi K, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N

Missense mutation (I143T) in a Japanese patient with Canavan disease.

Hum Mutat. 1998;Suppl 1:S308-9.

PubMed ID
9452117 [ View in PubMed
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Polypeptides
NameUniProt ID
AspartoacylaseP45381Details