Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.

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Genschel J, Czlonkowska A, Sommer G, Buettner C, Bochow B, Lochs H, Schmidt H

Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.

Hum Mutat. 2001 Feb;17(2):156.

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11180609 [ View in PubMed
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Polypeptides
NameUniProt ID
Copper-transporting ATPase 2P35670Details