Article
Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis.
Blood - 1 Jun 1994
Hirono A, Miwa S, Fujii H, Ishida F, Yamada K, Kubota K
Abstract excerpt
Using a newly developed nonradioisotopic method of polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis combined with the direct sequencing using the fluorescence-labeled terminator, we identified seven missense mutations, 527 A-->G, 1003 G-->A, 1159 C-->T, 1160 G...
Topics
- Base Sequence
- Exons
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Male
- Molecular Sequence Data
- Mutation
- NADP
- Polymerase Chain Reaction