Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
ContributorsAnderson, Beverley H; Kasher, Paul R; Mayer, Josephine
CollaboratorsFluss, Joel Victor; Jeannet, Pierre-Yves
Published inNature genetics, vol. 44, no. 3, p. 338-342
Publication date2012
Abstract
Keywords
- Abnormalities, Multiple/genetics
- Base Sequence
- Flow Cytometry
- Genetic Predisposition to Disease/genetics
- Histones/metabolism
- Molecular Sequence Data
- Retinal Telangiectasis/genetics/pathology
- Sequence Analysis, DNA/methods
- Telomere/pathology
- Telomere-Binding Proteins/genetics
Research group
Citation (ISO format)
ANDERSON, Beverley H, KASHER, Paul R, MAYER, Josephine. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. In: Nature genetics, 2012, vol. 44, n° 3, p. 338–342. doi: 10.1038/ng.1084
Main files (1)
Article (Published version)
Identifiers
- PID : unige:31209
- DOI : 10.1038/ng.1084
- PMID : 22267198
ISSN of the journal1061-4036