Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
- 9 March 2012
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 90 (3), 540-549
- https://doi.org/10.1016/j.ajhg.2012.02.002
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Comparison of solution-based exome capture methods for next generation sequencingGenome Biology, 2011
- Shelterin: the protein complex that shapes and safeguards human telomeresGenes & Development, 2005
- Leukoencephalopathy, cerebral calcifications, and cystsNeurology, 2004
- Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and IntegumentNeuropediatrics, 2004
- The Finnish disease heritage III: the individual diseasesHuman Genetics, 2003
- Telomere measurement by quantitative PCRNucleic Acids Research, 2002
- Prediction of deleterious human allelesHuman Molecular Genetics, 2001
- A Perfect MessageCell, 1999
- Extensive brain calcifications, leukodystrophy, and formation of parenchymal cystsNeurology, 1996
- A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcificationEye, 1988