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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
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...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2010 
Band / Volume:
87 
Heft / Issue:
Seitenangaben Beitrag:
480-93 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Kinderklinik und Poliklinik