Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease 英文论文文献.docVIP

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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease 英文论文文献.doc

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease 英文论文文献

Merleetal.BMCGastroenterology2010,10:8 /1471-230X/10/8 RESEARCH ARTICLE OpenAccess TruncatingmutationsintheWilsondiseasegene ATP7Bareassociatedwithverylowserum ceruloplasminoxidaseactivityandanearlyonset ofWilsondisease UtaMerle1*,KarlHeinzWeiss1,ChristophEisenbach1,SabineTuma1,PeterFerenci2,WolfgangStremmel1 Abstract Background:MutationsinthegeneATP7BcauseWilsondisease,acopperstoragedisorderwithahigh phenotypicandgeneticheterogeneity.Weaimedtoevaluatewhether‘severe’protein-truncatingATP7Bmutations (SMs)areassociatedwithlowserumceruloplasminoxidaseactivitiesandanearlyageofonsetwhencomparedt

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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease 英文论文文献.docVIP