FUNCTIONAL ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATIONS IN WILSON DISEASE
Abstract: Knowledge of how mutations other than p.H1069Q translate into the basic defect in Wilson disease (WD) is scarce due to the low incidence of homozygous index cases. A total of 12 homozygous mutations of ATP7B, were examined for their functional activity. Transfected Chinese hamster ovary ce...
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| Format: | Article |
| Language: | English |
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"Alexandru Ioan Cuza" University of Iași
2013-10-01
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| Series: | Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara |
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| Online Access: | http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/1068 |