Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

American Journal of Human Genetics

Volumn 84, Issue 6, 2009, Pages 718-727

  Saada, Ann ^a   Vogel, Rutger O ^b   Hoefs, Saskia J ^b   van den Brand, Mariël A ^b   Wessels, Hans J ^b   Willems, Peter H ^b   Venselaar, Hanka ^b   Shaag, Avraham ^a   Barghuti, Flora ^c   Reish, Orit ^d   Shohat, Mordechai ^e   Huynen, Martijn A ^b   Smeitink, Jan A M ^b   van den Heuvel, Lambert P ^b   Nijtmans, Leo G ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Al Mustaqbal Hospital   (Palestine)

^d ASSAF HAROFEH MEDICAL CENTER   (Israel)

^e Rabin and Schneider Medical Centers   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SUBSTITUTION; ARTICLE; CAUSAL ATTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FEMALE; GENE; GENE CLUSTER; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CONSERVATION; HOMOZYGOSITY; HUMAN; MALE; NDUFAF3 GENE; NDUFAF4 GENE; NEWBORN DISEASE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CALMODULIN-BINDING PROTEINS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FATAL OUTCOME; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

BACTERIA (MICROORGANISMS);

EID: 66749128531     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.04.020     Document Type: Article

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