Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS di...

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Detalles Bibliográficos
Autores principales: Bodoor, Khaldon, Batiha, Osama, Abu-Awad, Ayman, Al-Sarihin, Khaldon, Ziad, Haya, Jarun, Yousef, Abu-sheikha, Aya, Abu Jalboush, Sara, Alibrahim, Khoulod S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006133/
https://www.ncbi.nlm.nih.gov/pubmed/27617222
http://dx.doi.org/10.1016/j.mgene.2016.07.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006133/
https://www.ncbi.nlm.nih.gov/pubmed/27617222
http://dx.doi.org/10.1016/j.mgene.2016.07.003

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