Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 700-704

  Haudry, Coralie ^a   de Lonlay, Pascale ^a,b,c   Malan, Valerie ^a,b,c   Bole Feysot, Christine ^d   Assouline, Zahra ^a   Pruvost, Solenn ^d   Brassier, Anais ^a,b   Bonnefont, Jean Paul ^a,b,c   Munnich, Arnold ^a,b,c   Rötig, Agnès ^b,c   Lebre, Anne Sophie ^a,b,c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSERM   (France)

^d IMAGINE INSTITUTE   (France)

Author keywords

Chromosome 2; DGUOK gene; Hepatocerebral mitochondrial DNA depletion syndrome; Maternal uniparental disomy

Indexed keywords

OLIGONUCLEOTIDE;

ARTICLE; CASE REPORT; CHROMOSOME 2; CLINICAL FEATURE; COPY NUMBER VARIATION; DGUOK GENE; FEMALE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HAPLOTYPE; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; INFANT; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MICROSATELLITE REPEATS; MITOCHONDRIAL MYOPATHIES; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SYNDROME; UNIPARENTAL DISOMY;

EID: 84869878787     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.008     Document Type: Article

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