Two new variants of G6PD deficiencies in Singapore.

Abstract excerpt

Identification of mutations in G6PD gene is performed as an epidemiologic investigation of G6PD deficiency in many countries. In order to understand the hereditary background of G6PD deficiency in a population, screening of mutations is required not only in exonic regions but also for intron and promoter regions. One hundred male neonatal samples diagnosed as with G6PD deficiency by newborn screening in Singapore...

Topics

• Gene Deletion
• Glucose-6-Phosphatase
• Glycogen Storage Disease Type I
• Humans
• Infant, Newborn
• Introns
• Male
• Mutation
• Polymerase Chain Reaction
• Singapore