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A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies
| Title: | A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies |
| Authors: | Nakamura, Akinobu Browse this author →KAKEN DB | | Shimizu, Chikara Browse this author →KAKEN DB | | Nagai, So Browse this author →KAKEN DB | | Taniguchi, Satoshi Browse this author | | Umetsu, Masaaki Browse this author | | Atsumi, Toshiya Browse this author →KAKEN DB | | Wada, Norio Browse this author | | Yoshioka, Narihito Browse this author →KAKEN DB | | Ono, Yuri Browse this author | | Tanizawa, Yukio Browse this author | | Koike, Takao Browse this author →KAKEN DB |
| Keywords: | Wolfram syndrome | | GAD antibody | | IA-2 antibody | | WFS1 gene |
| Issue Date: | Aug-2006 |
| Publisher: | Elsevier Ireland Ltd |
| Journal Title: | Diabetes Research and Clinical Practice |
| Volume: | 73 |
| Issue: | 2 |
| Start Page: | 215 |
| End Page: | 217 |
| Publisher DOI: | 10.1016/j.diabres.2005.12.007 |
| PMID: | 16442662 |
| Abstract: | Wolfram syndrome is a rare, autosomal recessive disorder characterized by early-onset diabetes mellitus, optic atrophy and neurological and endocrinological abnormalities. A 47-year-old Japanese man with frequent severe hypoglycemic episodes was diagnosed as Wolfram syndrome based on clinical features and laboratory data. He had positive glutamic acid decarboxylase (GAD) and insulinoma-associated antigen-2 (IA-2) antibodies, both uncommon in this syndrome. Genetic analysis revealed that WFS1 gene of the patient has a homozygous 5 base pairs (AAGGC) insertion at position 1279 in exon 8, causing a frameshift at codon 371 leading to premature termination at codon 443. |
| Relation: | http://www.sciencedirect.com/science/journal/01688227 |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/14602 |
| Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 清水 力
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