Parry, Erin M

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. [electronic resource] - Journal of medical genetics May 2011 - 327-33 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.2010.085100 doi


Adolescent
Cell Cycle Proteins--genetics
Child
Dyskeratosis Congenita--genetics
Genetic Linkage--genetics
Humans
Infant
Infant, Newborn
Male
Mutation--genetics
Nuclear Proteins--genetics
Pedigree
Phenotype
Pulmonary Fibrosis--genetics
RNA--genetics
Regulatory Elements, Transcriptional--genetics
Telomerase--genetics
Telomere--genetics
X Chromosome Inactivation--genetics