Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

BACKGROUND: The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler–Scheie syndrome and attenuated Scheie syndrome)....

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Detalles Bibliográficos
Autores principales: Chkioua, Latifa, Boudabous, Hela, Jaballi, Ibtissem, Grissa, Oussama, Turkia, Hadhami Ben, Tebib, Neji, Laradi, Sandrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975427/
https://www.ncbi.nlm.nih.gov/pubmed/29843745
http://dx.doi.org/10.1186/s13000-018-0710-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975427/
https://www.ncbi.nlm.nih.gov/pubmed/29843745
http://dx.doi.org/10.1186/s13000-018-0710-3

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