Article
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
Archives of biochemistry and biophysics - 15 Oct 1998
Zapater N, Pié J, Lloberas J, Rolland M O, Leroux B, Vidailhet M, Divry P, Hegardt F G, Casals N
Abstract excerpt
Two novel point mutations in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene were found in a French patient with double heterozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by reverse transcriptase-polymerase chain reaction of the mRNA using five different pairs of oligonucleotide...
Topics
- Alleles
- Amino Acid Sequence
- Child, Preschool
- DNA Mutational Analysis
- Female
- Humans
- Meglutol
- Metabolism, Inborn Errors
- Oxo-Acid-Lyases
- Pedigree
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Restriction Mapping
- Reverse Transcriptase Polymerase Chain Reaction