Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A

Journal of Molecular Medicine

Volumn 89, Issue 6, 2011, Pages 569-576

  Wang, Zhi Qiang ^a,b   Chen, Xue Jiao ^b   Murong, Shen Xing ^b   Wang, Ning ^b   Wu, Zhi Ying ^a,b  

^a FUDAN UNIVERSITY   (China)

^b FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Electron transfer flavoprotein dehydrogenase (ETFDH); Genotype phenotype; Multiple acyl CoA dehydrogenation deficiency (MADD); Mutation analysis; Riboflavin responsive

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; OXIDOREDUCTASE; RIBOFLAVIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINA; CHINESE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE TISSUE; PEDIGREE; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SEQUENCE ANALYSIS;

CHINA; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HUMANS; IRON-SULFUR PROTEINS; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE; RIBOFLAVIN; SEQUENCE ANALYSIS, DNA;

EID: 79959965427     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-011-0725-7     Document Type: Article

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