Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families

Keyphrases

• α-L-iduronidase 100%
• Photosystem II 100%
• Tunisian Families 100%
• Hurler 33%
• Polymorphism 16%
• Exon 16%
• Prenatal Diagnosis 16%
• Lysosomal Storage Disease 16%
• Novel mutation 16%
• Genotype-phenotype Correlation 16%
• Nonsense mutation 16%
• Consanguinity 16%
• Exon 7 16%
• Insertion mutation 16%
• Novel Deletion 16%
• Exon Junction 16%
• Exon 13 16%
• Prenatal Counseling 16%
• Hurler-Scheie 16%
• Phenotypic Subtype 16%
• Tunisia 16%
• Southern Tunisia 16%
• Central Tunisia 16%

Biochemistry, Genetics and Molecular Biology

• Iduronidase 100%
• Mucopolysaccharidosis 100%
• Exon 66%
• Hurler Syndrome 66%
• Intron 16%
• Enzyme 16%
• Missense Mutation 16%
• Nonsense Mutation 16%
• Consanguinity 16%
• Indel 16%
• Lysosomal Storage Disease 16%
• Genotype-Phenotype Correlation 16%