Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs

By Trahan Christian   Martel Caroline   Dragon Franois  

Human Molecular Genetics, Vol. 19, Iss. 5, 2010-03 ,pp. : 825-836

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

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

Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

By Wong Judy   Kyasa Mouhammed   Hutchins Laura   Collins Kathleen  

Human Genetics, Vol. 115, Iss. 5, 2004-10 ,pp. : 448-455

Springer Publishing Company

Access to resources Recommend Favorite

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

By Zeng Xi-Lei   Thumati Naresh R.   Fleisig Helen B.   Hukezalie Kyle R.   Savage Sharon A.   Giri Neelam   Alter Blanche P.   Wong Judy M.Y.  

Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 721-729

Oxford University Press

Access to resources Recommend Favorite