๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Advances in the understanding of dyskeratosis congenita

โœ Scribed by Amanda J. Walne; Inderjeet Dokal

Book ID
108676204
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
252 KB
Volume
145
Category
Article
ISSN
0007-1048

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Assignment of the gene for dyskeratosis
Assignment of the gene for dyskeratosis congenita to Xq28
โœ J. M. Connor; D. Gatherer; F. C. Gray; Lindsay A. Pirrit; N. A. Affara ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› Springer ๐ŸŒ English โš– 362 KB

Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive family with the condition using the Xg blood group and 17 cloned X chromo

The RNA component of telomerase is mutat
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