Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene
✍ Scribed by Julie Støy; Donald F. Steiner; Soo-Young Park; Honggang Ye; Louis H. Philipson; Graeme I. Bell
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 354 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1389-9155
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum dis
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15 different mutations in the DGUOK gene from 9 kindreds. Among them, 12 have not previ