van Eijsden, Rudy G E

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics Oct 2006 - 620-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Validation Study

1098-3600

10.1097/01.gim.0000237782.94878.05 doi


Child
DNA Mutational Analysis--methods
DNA, Mitochondrial--analysis
Genetic Testing--methods
Humans
Mitochondrial Diseases--diagnosis
Mutation
Nucleic Acid Conformation
Oligonucleotide Array Sequence Analysis
Oxidative Phosphorylation
Polymerase Chain Reaction
RNA, Transfer--chemistry