Found 3 results
Filters: Keyword is RNA Splice Sites  [Clear All Filters]
Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M & Van Coster R (2015) Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat 36, 222-31
Johnson CM, Traherne JA, Jamieson SE, Tremelling M, Bingham S, Parkes M, Blackwell JM & Trowsdale J (2007) Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease. Tissue Antigens 69, 236-41
Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M & Marsac C (2001) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 17, 374-81