A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

 -spectrinBari: a truncated  -chain responsible for dominant hereditary spherocytosis

(2009) S. Perrotta et al.   HAEMATOLOGICA

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)

(2009) Anna L. Mitchell et al.   HUMAN MUTATION

The Carboxyl-terminal Domain of RNA Polymerase II Is Not Sufficient to Enhance the Efficiency of Pre-mRNA Capping or Splicing in the Context of a Different Polymerase

(2009) Barbara J. Natalizio et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

The Peculiarities of Large Intron Splicing in Animals

(2009) Samuel Shepard et al.   PLoS One

Alu Exonization Events Reveal Features Required for Precise Recognition of Exons by the Splicing Machinery

(2009) Schraga Schwartz et al.   PLoS Computational Biology

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

(2008) Sofie Symoens et al.   HUMAN MUTATION

Conserved RNA secondary structures promote alternative splicing

(2008) P. J. Shepard et al.   RNA

Splicing regulation: From a parts list of regulatory elements to an integrated splicing code

(2008) Z. Wang et al.   RNA