The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Nature

Volumn 413, Issue 6854, 2001, Pages 432-435

  Vulliamy, Tom ^a   Marrone, Anna ^a   Goldman, Frederick ^b   Dearlove, Andrew ^c   Bessler, Monica ^d   Mason, Philip J ^a   Dokal, Inderjeet ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^c HGMP Resource Centre   (United Kingdom)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOMES; DISEASES; ENZYMES; SKIN;

PIGMENTATION;

RNA;

DNA; DYSKERIN; NUCLEAR PROTEIN; RNA; TELOMERASE; UNCLASSIFIED DRUG;

RNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DYSKERATOSIS CONGENITA; FEMALE; GENE MUTATION; HUMAN; LEUKOPLAKIA; MALE; NAIL DYSTROPHY; PEDIGREE ANALYSIS; PIGMENT DISORDER; PRIORITY JOURNAL; SKIN PIGMENTATION; X CHROMOSOME LINKAGE;

CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; DYSKERATOSIS CONGENITA; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; POINT MUTATION; RNA; TELOMERASE; TELOMERE;

EID: 0035960043     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35096585     Document Type: Article

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