24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

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Orru S, Thomas G, Loizedda A, Cox DW, Contu L

24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

Hum Mutat. 1997;10(1):84-5.

PubMed ID
9222767 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Copper-transporting ATPase 2P35670Details