مقال بحثي وصول مفتوح
A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family
Objectives: The objective of this study was to characterise Wilson's Disease (WD) [OMIM 277900] genetically and test for allelic variants in the copper transport gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) responsible for the disease in an Omani family. Methods: Three index patients from an Omani family h …