Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
作者信息
Porfirio B, Chiarelli I, Graziano C, Mannoni A, Morrone A, Zammarchi E, De Bernabé D B, De Córdoba S R
出版信息
J Med Genet. 2000 Apr;37(4):309-12. doi: 10.1136/jmg.37.4.309.
Abstract
摘要
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