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

Busquets, C

Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition. [electronic resource] - Human mutation Feb 2000 - 207 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU15>3.0.CO;2-F doi


Amino Acid Substitution
Glutaryl-CoA Dehydrogenase
Haplotypes
Humans
Linkage Disequilibrium
Mutation
Oxidoreductases--deficiency
Oxidoreductases Acting on CH-CH Group Donors
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Spain