Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing

BACKGROUND: Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes. Here...

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Gepubliceerd in:Diabetes Metab J
Hoofdauteurs: Kim, Min Kyeong, Kwak, Soo Heon, Kang, Shinae, Jung, Hye Seung, Cho, Young Min, Kim, Seong Yeon, Park, Kyong Soo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Korean Diabetes Association 2015
Onderwerpen:
Brief Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4641974/
https://ncbi.nlm.nih.gov/pubmed/26566502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4093/dmj.2015.39.5.439
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