Identification of novel DKC1 mutations in patients with dyskeratosis congenita: Implications for pathophysiology and diagnosis

Human Genetics

Volumn 108, Issue 4, 2001, Pages 299-303

  Knight, S W ^a   Vulliamy, T J ^a   Morgan, B ^a   Devriendt, K ^b   Mason, P J ^a   Dokal, I ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RIBOSOME RNA; RNA; TELOMERASE;

AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; BLOOD AND HEMOPOIETIC SYSTEM; CATALYSIS; DYSKERATOSIS CONGENITA; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HUMAN; INTRON; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; RNA SPLICING; SEGREGATION ANALYSIS; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CELL CYCLE PROTEINS; DYSKERATOSIS CONGENITA; GENE EXPRESSION; GENETIC SCREENING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; RNA, MESSENGER;

EID: 0035002944     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100494     Document Type: Article

References (25)

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