Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 23, 2008, Pages 8073-8078

  Vulliamy, Tom ^a   Beswick, Richard ^a   Kirwan, Michael ^a   Marrone, Anna ^a,c   Digweed, Martin ^b   Walne, Amanda ^a   Dokal, Inderjeet ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Bone marrow failure; GAR1; Telomeres

Indexed keywords

DYSKERIN; GENE PRODUCT; PROTEIN GAR1; PROTEIN NHP2; PROTEIN NOP10; PROTEIN TERC; SMALL NUCLEOLAR RIBONUCLEOPROTEIN; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE; MUTANT PROTEIN; NOLA1 PROTEIN, HUMAN; NOLA2 PROTEIN, HUMAN; NUCLEAR PROTEIN; RNA BINDING PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANCER SUSCEPTIBILITY; COMPLEX FORMATION; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; GAR1 GENE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; NHP2 GENE; NOP10 GENE; OSTEOPOROSIS; PERIODONTAL DISEASE; PREMATURE AGING; PRIORITY JOURNAL; RNA STABILITY; TELOMERE; TERC GENE; TERT GENE; AMINO ACID SUBSTITUTION; CHEMISTRY; FEMALE; GENETICS; HELA CELL; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN SECONDARY STRUCTURE; RECESSIVE GENE; SYNDROME;

AGING, PREMATURE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DYSKERATOSIS CONGENITA; FEMALE; GENES, RECESSIVE; HELA CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RIBONUCLEOPROTEINS, SMALL NUCLEOLAR; RNA-BINDING PROTEINS; SYNDROME; TELOMERASE; TELOMERE;

EID: 45849131292     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0800042105     Document Type: Article

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