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Article

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.

American journal of human genetics - 8 Oct 2010

Hartmann Linda, Neveling Kornelia, Borkens Stephanie, Schneider Hildegard, Freund Marcel, Grassman Elke, Theiss Stephan, Wawer Angela, Burdach Stefan, Auerbach Arleen D, Schindler Detlev, Hanenberg Helmut, Schaal Heiner

Abstract excerpt

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 c...

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Source

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Identifiers

PMID: 20869034
DOI: 10.1016/j.ajhg.2010.08.016
PMCID: PMC2948791

Genes

FANCC
FANCD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20869034-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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