Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Human Molecular Genetics

Volumn 25, Issue 18, 2016, Pages 4062-4079

  Hartmannová, Hana ^a   Piherová, Lenka ^a   Tauchmannová, Kateřina ^b   Kidd, Kendrah ^c   Acott, Philip D ^d,e   Crocker, John F S ^d,e   Oussedik, Youcef ^f   Mallet, Marcel ^f   Hodaňová, Kateřina ^a   Stránecký, Viktor ^a   Přistoupilová, Anna ^a   Barešová, Veronika ^a   Jedličková, Ivana ^a   Živná, Martina ^a   Sovová, Jana ^a   Hůlková, Helena ^a   Robins, Vicki ^c   Vrbacký, Marek ^b   Pecina, Petr ^b   Kaplanová, Vilma ^b   Houštěk, Josef ^b   Mráček, Tomáš ^b   Thibeault, Yves ^f   Bleyer, Anthony J ^c   Kmoch, Stanislav ^a,c   more..

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b INSTITUTE OF PHYSIOLOGY   (Czech Republic)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

^d DALHOUSIE UNIVERSITY   (Canada)

^e IWK HEALTH CENTRE   (Canada)

^f Dr Georges L Dumont University Hospital Centre   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MITOCHONDRIAL PROTEIN; NADH UBIQUINONE OXIDOREDUCTASE COMPLEX ASSEMBLY FACTOR 6; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG; NDUFAF6 PROTEIN, HUMAN;

ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA TRANSFECTION; ENZYME SYNTHESIS; EXOME; FANCONI RENOTUBULAR SYNDROME; FANCONI SYNDROME ACADIAN VARIANT; GENE SEQUENCE; GENETIC VARIATION; GENOME ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRON; KIDNEY TISSUE; LUNG PARENCHYMA; MIDDLE AGED; MITOCHONDRIAL RESPIRATION; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; ULTRASTRUCTURE; YOUNG ADULT; CANADA; CHROMOSOMAL MAPPING; FEMALE; GENETIC PREDISPOSITION; GENETICS; KIDNEY; LUNG; MALE; METABOLISM; MITOCHONDRION; MUTATION; PATHOLOGY;

ADULT; ALLELES; CANADA; CHROMOSOME MAPPING; ELECTRON TRANSPORT COMPLEX I; EXOME; FANCONI SYNDROME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KIDNEY; LUNG; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 85003449967     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw245     Document Type: Article

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