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Molecular and Functional Analysis of SUMF1 Mutations in Multiple Sulfatase Deficiency.

Mp Cosma,S Pepe,G Parenti,C Settembre,I Annunziata,R Wade-Martins,C Di Domenico,P Di Natale,A Mankad,B Cox,G Uziel, Gms Mancini,E Zammarchi,Ma Donati,Wj Kleijer,M Filocamo,R Carrozzo,M Carella,A Ballabio

Human Mutation（2004）

引用 62|浏览11
关键词
multiple sulfatase deficiency,MSD,SUMF1,clinical presentation,mutation analysis
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