A glucose-6-phosphate dehydrogenase (G6PD) splice site consensus sequence mutation associated with G6PD enzyme deficiency.

@article{Sanders1997AGD,
  title={A glucose-6-phosphate dehydrogenase (G6PD) splice site consensus sequence mutation associated with G6PD enzyme deficiency.},
  author={S Sanders and D P Smith and G A Thomas and E D Williams},
  journal={Mutation research},
  year={1997},
  volume={374 1},
  pages={79-87}
}
  • S Sanders, D P Smith, +1 author E D Williams
  • Published 1997 in Mutation research
A glucose-6-phosphate dehydrogenase (G6PD) deficient strain of mouse (GPDX) which was developed using the ethylating agent ethylnitrosourea (ENU) has been used to study clonality in epithelial tissues. While the biochemical defect has been quantified, the genetic basis of the deficiency is unknown. The G6PD gene is composed of 13 exons. Exon 1 is not translated, and the ATG start site is near the 5' end of exon 2. Direct sequencing of the exonic regions of the gene from GPDX, C3H, 101, C57BL/6… CONTINUE READING

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