A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Anderson, S L ^a   Chung, W K ^b   Frezzo, J ^a   Papp, J C ^c   Ekstein, J ^d,e   Di Mauro, S ^b   Rubin, B Y ^a  

^a FORDHAM UNIVERSITY   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Dor Yeshorim   (United States)

^e Dor Yeshorim   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; MICROSATELLITE DNA; NDUFS4 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE REPORT; ENZYMOLOGY; ETHNOLOGY; FATALITY; FEMALE; GENE FREQUENCY; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HEREDITY; HOMOZYGOTE; HUMAN; INFANT; JEW; LEIGH DISEASE; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; PREGNANCY; PRESCHOOL CHILD; PROTEIN PROCESSING;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CYCLIC AMP-DEPENDENT PROTEIN KINASES; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FEMALE; GENE FREQUENCY; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEREDITY; HOMOZYGOTE; HUMANS; INFANT; JEWS; LEIGH DISEASE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; PREGNANCY; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84855606038     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1049-9     Document Type: Article

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