Amerindian Pyruvate Carboxylase Deficiency is Associated With Two Distinct Missense Mutations

Findings provide the first characterization of the human pyruvate carboxylase gene structure, identify common pathogenic mutations, as well as demonstrate founder effect in the study's Ojibwa and Cree patients.
Mary Anna Carbone
Nevi MacKay
Mingfu Ling
David E. C. Cole
Cheryl Douglas
Brigitte Rigate ... [et al.]
Open Access
Primary Source
American Journal of Human Genetics, vol. 62, no. 6, June 1998, pp. 1312-1319
Publication Date
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Articles -- Scholarly, peer reviewed
Text -- PDF
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