Deep intronic sequence variants in COL2A1 affect the alternative splicing efficiency of Exon 2, and may confer a risk for rhegmatogenous retinal detachment

Carl Spickett, Pirro Hysi, Chistopher J. Hammond, Alan Prescott, Gregory S. Fincham, Arabella V. Poulson, Annie M. McNinch, Allan J. Richards (Lead / Corresponding author), Martin P. Snead (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)
278 Downloads (Pure)

Fingerprint

Dive into the research topics of 'Deep intronic sequence variants in COL2A1 affect the alternative splicing efficiency of Exon 2, and may confer a risk for rhegmatogenous retinal detachment'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology