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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2000 Apr;37(4):309–312. doi: 10.1136/jmg.37.4.309

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

B PORFIRIO, I CHIARELLI, C GRAZIANO, A MANNONI, A MORRONE, E ZAMMARCHI, D B-V DE BERNABE, S R DE CORDOBA
PMCID: PMC1734567  PMID: 10819641

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