Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita

Journal of Allergy and Clinical Immunology

Volumn 129, Issue 2, 2012, Pages

  Touzot, Fabien ^a,b,c,i   Gaillard, Laetitia ^a,b,i   Vasquez, Nadia ^d   Le Guen, Tangui ^a,b,i   Bertrand, Yves ^e,f   Bourhis, Jean ^g   Leblanc, Thierry ^h   Fischer, Alain ^a,b,c,i   Soulier, Jean ^d   De Villartay, Jean Pierre ^a,b,c,i   Revy, Patrick ^a,b,i  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Institut Universitaire d'Hématologie   (France)

^e Institut d'Hématologie et d'Oncologie Pédiatrique   (France)

^f UNIVERSITÉ LYON 1   (France)

^g INSTITUT GUSTAVE ROUSSY   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ IMAGINE INSTITUTE   (France)

Author keywords

bone marrow failure; dyskeratosis congenita; Hoyeraal Hreidarsson syndrome; immune deficiencies; senescence; Telomere

Indexed keywords

DYSKERIN; TELOMERASE;

ARTICLE; BLOOD CELL; CHILD; CHROMOSOME SIZE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA REPAIR; DNA STRAND BREAKAGE; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HREIDARSSON SYNDROME; HUMAN; HUMAN CELL; INFANT; MALE; MOLECULAR MECHANICS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SENESCENCE; STRUCTURAL CHROMOSOME ABERRATION; TELOMERE; TINF2 GENE;

EID: 84856420736     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2011.09.043     Document Type: Article

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