Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

Blood

Volumn 104, Issue 13, 2004, Pages 3936-3942

  Marrone, Anna ^a   Stevens, David ^a   Vulliamy, Tom ^a   Dokal, Inderjeet ^a   Mason, Philip J ^a,b  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RNA; TELOMERASE;

APLASTIC ANEMIA; ARTICLE; CATALYSIS; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; ENZYME ASSAY; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRACELLULAR SPACE; MOLECULE; MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STRUCTURE;

EID: 10244222239     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-05-1829     Document Type: Article

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