Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

Genetics in Medicine

Volumn 8, Issue 10, 2006, Pages 620-627

  Van Eijsden, Rudy G E ^a   Gerards, Mike ^a   Eijssen, Lars M T ^a,b   Hendrickx, Alexandra T M ^a   Jongbloed, Roselie J E ^a,b   Wokke, John H J ^c   Hintzen, Rogier Q ^d   Rubio Gozalbo, Maria E ^a   De Coo, Irenaeus F M ^d   Briem, Egill ^e   Tiranti, Valeria ^e   Smeets, Hubert J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Heteroplasmy; MitoChip; mtDNA; OXPHOS disease; Resequencing

Indexed keywords

GENOMIC DNA; MITOCHONDRIAL DNA;

ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HETEROPLASMY; HUMAN; INBORN ERROR OF METABOLISM;

CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENETIC SCREENING; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; NUCLEIC ACID CONFORMATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OXIDATIVE PHOSPHORYLATION; POLYMERASE CHAIN REACTION; RNA, TRANSFER;

EID: 33750543175     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000237782.94878.05     Document Type: Article

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