User: Guest  Login
Document type:
journal article 
Author(s):
Hartmann, L; Neveling, K; Borkens, S; Schneider, H; Freund, M; Grassman, E; Theiss, S; Wawer, A; Burdach, S; Auerbach, AD; Schindler, D; Hanenberg, H; Schaal, H 
Title:
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. 
Abstract:
The U1 small nuclear RNA (U1 snRNA) as a component of the major U2-dependent spliceosome recognizes 5' splice sites (5'ss) containing GT as the canonical dinucleotide in the intronic positions +1 and +2. The c.165+1G>T germline mutation in the 5'ss of exon 2 of the Fanconi anemia C (FANCC) gene commonly predicted to prevent correct splicing was identified in nine FA patients from three pedigrees. RT-PCR analysis of the endogenous FANCC mRNA splicing pattern of patient-derived fibroblasts reveale...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2010 
Journal volume:
87 
Journal issue:
Pages contribution:
480-93 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Kinderklinik und Poliklinik