Article
Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies.
Prenatal diagnosis - 1 Jun 1999
Houstek J, Klement P, Hermanská J, Antonická H, Houstková H, Stratilová L, Wanders R J, Zeman J
Abstract excerpt
Different severe disorders of cytochrome c oxidase (COX) have been described in children, but only the defects with autosomal inheritance are suitable for prenatal diagnosis. To perform prenatal diagnosis of fatal infantile COX deficiency a complex approach has been used which combined determination of the genetic origin of the defect, and detailed analysis of the function, content and subunit composition of the...
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