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Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms

✍ Scribed by Sobhani, Maryam; Tabatabaiefar, Mohammad Amin; Rajab, Asadollah; Kajbafzadeh, Abdol-Mohammad; Noori-Daloii, Mohammad Reza

Book ID: 121455143
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 666 KB
Volume: 528
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.06.040

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Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical features, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Affected individuals may also show renal tract abnormali