Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees-Reference-Cited by-同舟云学术

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Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees

Published:2016-07-13 Issue:6 Volume:53 Page:899-904
ISSN:0940-5429
Container-title:Acta Diabetologica
language:en
Short-container-title:Acta Diabetol

Author:

Ghahraman Martha,Abbaszadegan Mohammad Reza,Vakili Rahim,Hosseini Sousan,Fardi Golyan Fatemeh,Ghaemi Nosrat,Forghanifard Mohammad Mahdi

Funder

Mashhad University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00592-016-0884-7.pdf

Reference25 articles.

1. Barrett T, Bundey S, Macleod A (1995) Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346(8988):1458–1463

2. Hofmann S et al (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 39(1):8–18

3. Scolding NJ et al (1996) Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol 39(3):352–360

4. Gómez-Zaera M et al (2001) Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 72(1):72–81

5. Inoue H et al (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20(2):143–148

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family;Acta Diabetologica;2019-07-15

2. Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome;Acta Diabetologica;2017-08-30

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