Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

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Okumiya T, Kawamura O, Itoh K, Kase R, Ishii S, Kamei S, Sakuraba H

Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

Hum Mutat. 1998;Suppl 1:S213-6.

PubMed ID
9452090 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Alpha-galactosidase AP06280Details