Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 13-18

  Van Coster, Rudy ^a   Seneca, S ^b   Smet, J ^a   Van Hecke, R ^a   Gerlo, E ^b   Devreese, B ^c   Van Beeumen, J ^c   Leroy, J G ^b   De Meirleir, L ^b   Lissens, W ^b  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^c GHENT UNIVERSITY   (Belgium)

Author keywords

Blue native polyacrylamide gel electrophoresis (Blue Native PAGE); Complex II deficiency; Complex instability; Flavoprotein; Iron containing protein

Indexed keywords

AMINO ACID; CITRATE SYNTHASE; COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; FLAVOPROTEIN; GLUTAMIC ACID; GLYCINE; MESSENGER RNA; POLYPEPTIDE; PYRUVATE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RNA; SUCCINATE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; LEIGH DISEASE; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE; SPECTROPHOTOMETRY;

EID: 10744232949     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10202     Document Type: Article

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