Gene Symbol: IDUA
OMIM: 252800Chromosome location: 4p16.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Sicily | 11% of the total alleles | NA | Gatti R et al., 1997Gatti R, DiNatale P, Villani GR, Filocamo M, Muller V, Guo XH, Nelson PV, Scott HS, Hopwood JJ, . Mutations among Italian mucopolysaccharidosis type I patients.. J. Inherit. Metab. Dis.. 1997; 20(6):803-6 |
| Morocco | NA | NA | 92% of mutant alleles | NA | Alif N et al., 1999Alif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B, . Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.. Ann. Hum. Genet.. 1999; 63(0):9-16 |
| Tunisia | NA | NA | 3 patients/ 6 unrelated patients | NA | Chkioua L et al., 2011Chkioua L, Khedhiri S, Turkia HB, Tcheng R, Froissart R, Chahed H, Ferchichi S, Ben Dridi MF, Vianey-Saban C, Laradi S, Miled A, . Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.. Diagn Pathol. 2011; 6(0):47 |
| Tunisia | NA | NA | 62.5% of mutant alleles | NA | Chkioua L et al., 2007Chkioua L, Khedhiri S, Jaidane Z, Ferchichi S, Habib S, Froissart R, Bonnet V, Chaabouni M, Dandana A, Jrad T, Limem H, Maire I, Abdelhedi M, Laradi S, . [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].. Arch Pediatr. 2007; 14(10):1183-9 |
References
Alif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B, Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.Ann. Hum. Genet.. 1999; 63(0):9-16
Chkioua L, Khedhiri S, Jaidane Z, Ferchichi S, Habib S, Froissart R, Bonnet V, Chaabouni M, Dandana A, Jrad T, Limem H, Maire I, Abdelhedi M, Laradi S, [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].Arch Pediatr. 2007; 14(10):1183-9
Chkioua L, Khedhiri S, Turkia HB, Tcheng R, Froissart R, Chahed H, Ferchichi S, Ben Dridi MF, Vianey-Saban C, Laradi S, Miled A, Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.Diagn Pathol. 2011; 6(0):47
Gatti R, DiNatale P, Villani GR, Filocamo M, Muller V, Guo XH, Nelson PV, Scott HS, Hopwood JJ, Mutations among Italian mucopolysaccharidosis type I patients.J. Inherit. Metab. Dis.. 1997; 20(6):803-6