학술논문
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
Document Type
Article
Author
Source
Human Molecular Genetics; Mar2000, Vol. 9 Issue 5, p795, 8p, 4 Black and White Photographs, 1 Diagram, 2 Charts, 3 Graphs
Subject
Language
ISSN
09646906
Abstract
Examines the association between SCO2 mutations, distinct forms of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Clinical manifestations; Transfer of copper from the plasma membrane transporter to cytosolic proteins; Factors involved in mitochondrial copper delivery.