Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
About this item
Full title
Author / Creator
Bonnycastle, Lori L. , Chines, Peter S. , Hara, Takashi , Huyghe, Jeroen R. , Swift, Amy J. , Heikinheimo, Pirkko , Mahadevan, Jana , Peltonen, Sirkku , Huopio, Hanna , Nuutila, Pirjo , Narisu, Narisu , Goldfeder, Rachel L. , Stitzel, Michael L. , Lu, Simin , Boehnke, Michael , Urano, Fumihiko , Collins, Francis S. and Laakso, Markku
Publisher
Alexandria, VA: American Diabetes Association
Journal title
Language
English
Formats
Publication information
Publisher
Alexandria, VA: American Diabetes Association
Subjects
More information
Scope and Contents
Contents
We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented with diabetes with age of diagnosis ranging from 18 to 51 years and a pattern suggesting autosomal dominant inheritance. We sequenced the exomes of four affected member...
Alternative Titles
Full title
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3806620
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3806620
Other Identifiers
ISSN
0012-1797
E-ISSN
1939-327X
DOI
10.2337/db13-0571
