Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase, a-L-iduronidase enzyme encoded by IDUA gene. Over a hundred causative variants in IDUA have been identified, which result in a progressive multi-sy...

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Detalles Bibliográficos
Autores principales: Azab, Belal, Dardas, Zain, Hamarsheh, Mohannad, Alsalem, Mohammad, Kilani, Zaid, Kilani, Farah, Awidi, Abdalla, Jafar, Hanan, Amr, Sami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470527/
https://www.ncbi.nlm.nih.gov/pubmed/28649516
http://dx.doi.org/10.1016/j.ymgmr.2017.06.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470527/
https://www.ncbi.nlm.nih.gov/pubmed/28649516
http://dx.doi.org/10.1016/j.ymgmr.2017.06.001

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