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

Authors
Porfirio, B Chiarelli, I Graziano, C Mannoni, A Morrone, A Zammarchi, E De Bernabe, DBV De Cordoba, SR
Citation
B. Porfirio et al., Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene, J MED GENET, 37(4), 2000, pp. 309-312
Citations number
19
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
37
Issue
4
Year of publication
2000
Pages
309 - 312
Database
ISI
SICI code
0022-2593(200004)37:4<309:AIIPHB>2.0.ZU;2-M