Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita

By Grozdanov Petar N.   Fernandez-Fuentes Narcis   Fiser Andras   Meier U. Thomas  

Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4546-4551

Oxford University Press

Access to resources Recommend Favorite

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita

By Heiss Nina S.   Girod Andreas   Salowsky Rüdiger   Wiemann Stefan   Pepperkok Rainer   Poustka Annemarie  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2515-2524

Oxford University Press

Access to resources Recommend Favorite

Germline mutations of regulator of telomere elongation helicase 1, , in Dyskeratosis congenita

By Ballew Bari   Yeager Meredith   Jacobs Kevin   Giri Neelam   Boland Joseph   Burdett Laurie   Alter Blanche   Savage Sharon  

Human Genetics, Vol. 132, Iss. 4, 2013-04 ,pp. : 473-480

Springer Publishing Company

Access to resources Recommend Favorite

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and RothmundThomson syndrome

By Walne Amanda J.   Vulliamy Tom   Beswick Richard   Kirwan Michael   Dokal Inderjeet  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4453-4461

Oxford University Press

Access to resources Recommend Favorite

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1578-1581

John Wiley & Sons Inc

Access to resources Recommend Favorite