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2009•Clinica Chimica ActaRequires access

A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria

Jonathan M. Grasko, Amanda J. Hooper, Jeffrey W. Brown, C. James McKnight, John R. Burnett

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Key concepts: Alkaptonuria, Missense mutation, Homogentisic acid, Exon, Genetics, Compound heterozygosity, Mutation, Medicine

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