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Objectifs. – Confirmer le diagnostic de rhumatisme alcaptonurique par le dosage de l'acide homogentisique urinaire chez les 14 sujets examinés. Tenter d'établir une corrélation génotype–phénotype chez les cinq patients ayant bénéficié d'une étude moléculaire du gène de l'homogentisate 1,2-dioxygénase.Méthodes. – Nous rapportons 14 observations d'alcaptonurie (dix hommes et quatre femmes) dans 11 familles...
Objectives. – To confirm alkaptonuria and ochronotic arthropathy diagnosis by mutation screening of the homogentisate 1,2-dioxygenase (HGD) gene. Try to establish a genotype-phenotype correlation in the five subjects with a molecular study on HGD gene.Methods. – We report 14 alkaptonuria cases (10 men and four women) in 11 Algerian families. Consanguineous matings were evidenced in only three families...
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