Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

Journal of Medical Genetics

Volumn 48, Issue 5, 2011, Pages 327-333

  Parry, Erin M ^a,b   Alder, Jonathan K ^a   Lee, Stella S ^b   Phillips, John A ^c   Loyd, James E ^c   Duggal, Priya ^d   Armanios, Mary ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN;

ARTICLE; DYSKERATOSIS CONGENITA; GENE MUTATION; GENETIC LINKAGE; HUMAN; LUNG FIBROSIS; PRIORITY JOURNAL; RNA STABILITY; TELOMERE; X CHROMOSOME LINKAGE;

ADOLESCENT; CELL CYCLE PROTEINS; CHILD; DYSKERATOSIS CONGENITA; GENETIC LINKAGE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PULMONARY FIBROSIS; REGULATORY ELEMENTS, TRANSCRIPTIONAL; RNA; TELOMERASE; TELOMERE; X CHROMOSOME INACTIVATION;

EID: 79955526833     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.085100     Document Type: Article

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