Article
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2010
Kasper David C, Iqbal Furhan, Dvorakova Lenka, Zeman Jiri, Magner Martin, Bodamer Olaf, Pollak Arnold, Herkner Kurt R, Item Chike B
Abstract excerpt
BACKGROUND: Mutations in the alpha-l-iduronidase A (IDUA) gene cause mucopolysaccharidosis type I (MPS I), a progressive multisystem disorder with features ranging over a continuum from mild to severe which is inherited in an autosomal recessive manner. To date over 100 mutations are known, nonetheless genotype-phenotype prediction is complicated and hampered due to attenuating polymorphisms, rare sequence...
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