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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2007-10-22
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pubmed:abstractText |
Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1090-6576
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pubmed:author |
pubmed-author:BarberaCristianaC,
pubmed-author:CaoAntonioA,
pubmed-author:De VirgiliisStefanoS,
pubmed-author:DessiValentinaV,
pubmed-author:FarciAnna Maria GiuliaAM,
pubmed-author:GiacchinoRaffaellaR,
pubmed-author:IncolluSimonaS,
pubmed-author:IorioRaffaeleR,
pubmed-author:KosticVladimirV,
pubmed-author:LeporiMaria BarbaraMB,
pubmed-author:LoudianosGeorgiosG,
pubmed-author:LovicuMarioM,
pubmed-author:MaggioreGiuseppeG,
pubmed-author:MarcelliniMatildeM,
pubmed-author:PellecchiaMaria TeresaMT,
pubmed-author:SimonettiRosannaR,
pubmed-author:SolinasAntonelloA,
pubmed-author:VajroPietroP,
pubmed-author:ZancanLuciaL,
pubmed-author:ZappuAntoniettaA
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pubmed:issnType |
Print
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pubmed:volume |
11
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
328-32
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pubmed:meshHeading |
|
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pubmed:year |
2007
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pubmed:articleTitle |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
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pubmed:affiliation |
Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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