The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 221-226

  Brahimi, N ^a   Jambou, M ^a   Sarzi, E ^a   Serre, V ^a   Boddaert, N ^a,b,c,e   Romano, S ^a   de Lonlay, P ^a,b,e   Slama, A ^b,d   Munnich, A ^a,b,e   Rotig A ^a,b   Bonnefont, J P ^a,b,e   Lebre, A S ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c DIF   (France)

^d BICÊTRE HOSPITAL   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

DGUOK gene; Founder mutation; Hepatoencephalopathy; In silico structure analysis; Mitochondrial DNA depletion syndrome

Indexed keywords

DEOXYGUANOSINE KINASE; DEOXYRIBONUCLEOSIDE; PURINE NUCLEOSIDE DERIVATIVE;

ALPHA HELIX; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER MODEL; CONSANGUINEOUS MARRIAGE; DGUOK GENE; ENZYME BINDING; GENE; GENE INSERTION; GENE LOCUS; GLOBUS PALLIDUS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INFANT; INTRON; MALE; MICROSATELLITE MARKER; MITOCHONDRIAL DNA DEPLETION SYNDROME; MYELINATION; NEUROIMAGING; NORTH AFRICA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FATAL OUTCOME; FOUNDER EFFECT; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEPATIC ENCEPHALOPATHY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROTEIN STRUCTURE, SECONDARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME;

EID: 67349164659     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.03.007     Document Type: Article

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