Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

@article{Carbone1998AmerindianPC,
  title={Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.},
  author={Mary Anna Carbone and Neviana Mackay and M. M. Ling and David E. C. Cole and Christal Douglas and Brigitte Rigat and Annette Feigenbaum and Joe T. R. Clarke and James C. Haworth and Cheryl Rochman Greenberg and Lorne Seargeant and B. H. Robinson},
  journal={American journal of human genetics},
  year={1998},
  volume={62 6},
  pages={1312-9}
}
We characterized the pyruvate carboxylase (PC) gene by PCR amplification, subcloning, and sequencing. The coding region has 19 exons and 18 introns spanning approximately 16 kb of genomic DNA. Screening both the cDNA and the gene of individuals with the simple A form of PC deficiency revealed an 1828G-->A missense mutation in 11 Ojibwa and 2 Cree patients and a 2229G-->T transversion mutation in 2 brothers of Micmac origin. Carrier frequency may be as high as 1/10 in some groupings. The two… CONTINUE READING

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