A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita

Pediatric Hematology and Oncology

Volumn 19, Issue 6, 2002, Pages 413-419

  Hiramatsu, Hidefumi ^a   Fujii, Tatsuya ^a   Kitoh, Toshiyuki ^a   Sawada, Machiko ^a   Osaka, Mitsuhiko ^b   Koami, Kenichi ^b,c   Irino, Tamotsu ^b   Miyajima, Tomoko ^a   Ito, Masatoshi ^a   Sugiyama, Taketoshi ^b   Okuno, Takehiko ^a  

^a UNIVERSITY OF FUKUI   (Japan)

^b Shiga Medical Center   (Japan)

^c KYOTO UNIVERSITY   (Japan)

Author keywords

Aplastic anemia; DKC1; Dyskeratosis congenita; Dyskerin; Mutation

Indexed keywords

COMPLEMENTARY DNA; DYSKERIN; GENE PRODUCT; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; DKC1 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ARTICLE; BLOOD DISEASE; CASE REPORT; DISEASE SEVERITY; DKC1 GENE; DYSKERATOSIS CONGENITA; FAMILIAL DISEASE; GENE ISOLATION; GENE TRANSLOCATION; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER; CHEMISTRY; CHILD; GENETIC LINKAGE; GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; X CHROMOSOME;

CASE REPORT; CELL CYCLE PROTEINS; CHILD; DNA, COMPLEMENTARY; DYSKERATOSIS CONGENITA; HUMAN; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; X CHROMOSOME; CHROMOSOMES, HUMAN, X; HUMANS;

EID: 0036707985     PISSN: 08880018     EISSN: None     Source Type: Journal    
DOI: 10.1080/08880010290097170     Document Type: Article

References (10)

1. Dyskeratosis congenita
2. "Stem cell" origin of the hematopoietic defect in dyskeratosis congenita
3. Dyskeratosis Congenita (DC) Registry: Identification of new features of DC
4. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
5. A telomerase component is defective in the human disease dyskeratosis congenita
6. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene
7. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
8. Dyskeratosis congenita caused by a 3′ deletion: Germline and somatic mosaicism in a female carrier
9. Single-step method of RNA isolation by acid guanidinium thiocyanatephenol-chloroform extraction
10. Dyskeratosis and ribosomal rebellion