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Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex

โœ Scribed by T.J. Vulliamy; I. Dokal

Book ID
116308822
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
750 KB
Volume
90
Category
Article
ISSN
0300-9084

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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
โœ Vulliamy, Tom; Marrone, Anna; Goldman, Frederick; Dearlove, Andrew; Bessler, Mon ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› Nature Publishing Group ๐ŸŒ English โš– 195 KB

Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy 1,2 . X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is