Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.

Human mutation

Volumn 15, Issue 2, 2000, Pages 207-

  Busquets, C ^a   Coll, M J ^a   Ribes, A ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARYL COENZYME A DEHYDROGENASE; OXIDOREDUCTASE;

AMINO ACID SUBSTITUTION; ARTICLE; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETICS; HAPLOTYPE; HUMAN; MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

AMINO ACID SUBSTITUTION; GLUTARYL-COA DEHYDROGENASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPAIN;

MLCS; MLOWN;

EID: 0034134126     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200002)15:2<207::aid-humu15>3.0.co;2-f     Document Type: Article

References (0)