Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH.
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Am J Hum Genet. 1998 Jun;62(6):1312-9. doi: 10.1086/301884.
Am J Hum Genet. 1998.
PMID: 9585612
Free PMC article.