Associated Papers
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
Chin EL et al.
Bmc Genetics, 2013
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Chkioua L et al.
Diagnostic Pathology, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F et al.
Human Mutation, 2011
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Chkioua L et al.
Diagnostic Pathology, 2011
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