CTC1 Mutations in a patient with dyskeratosis congenita

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

(2012) Anne Polvi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Connecting complex disorders through biology

(2012) Sharon A Savage   NATURE GENETICS

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

(2012) Beverley H Anderson et al.   NATURE GENETICS

The genetics of dyskeratosis congenita

(2012) Philip J. Mason et al.   Cancer Genetics

Clinical utility gene card for: Dyskeratosis congenita

(2011) Inderjeet Dokal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dyskeratosis Congenita

(2009) Sharon A. Savage et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

RPA-like Mammalian Ctc1-Stn1-Ten1 Complex Binds to Single-Stranded DNA and Protects Telomeres Independently of the Pot1 Pathway

(2009) Yasuyuki Miyake et al.   MOLECULAR CELL

Conserved Telomere Maintenance Component 1 Interacts with STN1 and Maintains Chromosome Ends in Higher Eukaryotes

(2009) Yulia V. Surovtseva et al.   MOLECULAR CELL

Telomere Diseases

(2009) Rodrigo T. Calado et al.   NEW ENGLAND JOURNAL OF MEDICINE

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

(2008) Sharon A. Savage et al.   AMERICAN JOURNAL OF HUMAN GENETICS