A novel 22 bp deletion in a Tunisian phenylketonuria family |
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| Authors: | S. Khemir H. Siala H. Azzouz N. Tebib J.L. Dhondt T. Messaoud S. Abdelhak M.F. Ben Dridi N. Kaabachi |
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| Affiliation: | 1. Biochemistry laboratory, Rabta hospital, 1007 Jebbari, Tunis, Tunisia;2. Laboratory of biochemistry and molecular biology, Children hospital, 1007 Jebbari, Tunis, Tunisia;3. Department of paediatrics, Rabta hospital, 1007 Jebbari, Tunis, Tunisia;4. Clinical biology laboratory, Hôpital St-Philibert, 115, rue du Grand-But, 59462 Lomme, France;5. Research unit UR04/SP03, Pasteur Institute, 1002 Tunis-Belvedere, Tunis, Tunisia |
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| Abstract: | Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the PAH gene have been reported. In Tunisia, this disease seems to be the result of point mutations, few studies have been published about molecular defects of PKU in our country. In this study, we report a novel deletion in exon 6 of two brothers in a Tunisian family after DHPLC analysis and sequencing of the exon 6 of the PAH gene. |
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