Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Archives of Disease in Childhood

Volumn 94, Issue 1, 2009, Pages 55-58

  Lee, N C ^a   Dimmock, D ^b   Hwu, W L ^a   Tang, L Y ^b   Huang, W C ^c   Chinault, A C ^b   Wong, L J C ^b  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE; MITOCHONDRIAL DNA; OLIGONUCLEOTIDE;

ARTICLE; BLOOD; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; DEOXYGUANOSINE GENE; DIAGNOSTIC PROCEDURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DNA MICROARRAY; DNA SEQUENCE; DNA SYNTHESIS; EXON; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INFANT; LIVER; LIVER FAILURE; MALE; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; NEWBORN SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TYROSINEMIA;

ALANINE; BASE SEQUENCE; DEOXYGUANINE NUCLEOTIDES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EXONS; GENE DELETION; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; LIVER FAILURE; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME; TYROSINE;

EID: 58349099821     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2008.139584     Document Type: Article

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