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Dyskeratosis congenita: telomerase, telomeres and anticipation

โœ Scribed by Anna Marrone; Amanda Walne; Inderjeet Dokal


Book ID
116504972
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
166 KB
Volume
15
Category
Article
ISSN
0959-437X

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Dyskeratosis congenita: its link to telo
โœ Inderjeet Dokal; Tom Vulliamy ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› Elsevier Science ๐ŸŒ English โš– 353 KB

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome exhibiting considerable clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms are recognised. The gene mutated in X-linked DC (DKC1) encodes a highly conserved nucleolar protei