Alport syndrome caused by aCOL4A5deletion and exonization of an adjacentAluY

Natural history of genetically proven autosomal recessive Alport syndrome

(2014) Masafumi Oka et al.   PEDIATRIC NEPHROLOGY

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

(2009) Petr Divina et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transposable elements in disease-associated cryptic exons

(2009) Igor Vorechovsky   HUMAN GENETICS

Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisenseAlulacking the poly(T)-tail

(2009) David Meili et al.   HUMAN MUTATION

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

(2009) Schraga Schwartz et al.   PLoS Computational Biology

RNA landscape of evolution for optimal exon and intron discrimination

(2008) C. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA