LastName | Mihailova |
FirstName | Snejina |
immun@alexandrovska-hospital.bg | |
OrganizationName | Central Laboratory of Clinical Immunology |
Country | Bulgaria |
Address | University Hospital Alexandrovska%1 G.Sofiisky Str%Sofia 1431 |
PILastName | Naumova |
PIFirstName | Elissaveta |
PIEmail | immun@alexandrovska-hospital.bg |
Detection | automated |
SampleID | DGP |
Tissue | blood |
Phenotype | Myopathy |
Ethnicity | Caucasian |
Origin | Bulgaria |
Haplogroup | - |
Comment | This mutation is in the ATP8-ATP6 overlap region. Additional polymorphisms tested:G11914A;T11944C |