Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus

Aging Cell

Volumn 12, Issue 6, 2013, Pages 1100-1109

  Gu, Peili ^a   Chang, Sandy ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Aging; Mouse models; Telomeres

Indexed keywords

AMINO ACID; CTC1 PROTEIN; DNA; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CHROMOSOME; COATS PLUS; DNA STRUCTURE; EXUDATIVE RETINITIS; FRAMESHIFT MUTATION; GENE MUTATION; GENOMIC INSTABILITY; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STRUCTURE; STOP CODON; TELOMERE; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING;

AGING; MOUSE MODELS; TELOMERES;

ANIMALS; ATAXIA; BRAIN NEOPLASMS; CALCINOSIS; CENTRAL NERVOUS SYSTEM CYSTS; DNA POLYMERASE I; HETEROZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MICE; MUSCLE SPASTICITY; MUTANT PROTEINS; MUTATION; PROTEIN BINDING; RETINAL DISEASES; SEIZURES; TELOMERE; TELOMERE HOMEOSTASIS; TELOMERE-BINDING PROTEINS;

EID: 84888137025     PISSN: 14749718     EISSN: 14749726     Source Type: Journal    
DOI: 10.1111/acel.12139     Document Type: Article

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