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.
Author/Creator
Mary Anna Carbone
Nevi MacKay
Mingfu Ling
David E. C. Cole
Cheryl Douglas
Brigitte Rigate ... [et al.]
Open Access
No
Primary Source
No
Citation
American Journal of Human Genetics, vol. 62, no. 6, June 1998, pp. 1312-1319
Publication Date
1998-06
Resource Type
Articles -- Scholarly, peer reviewed
Format
Text -- PDF
Text -- HTML
Language
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