A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement - Concepedia

Concepedia

Publication | Open Access

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

DOI Full Paper Access

152

Citations

37

References

2011

Year

Sara J. Bowne, Marian M. Humphries, Lori S. Sullivan, Paul F. Kenna, Lawrence C. S. Tam, Anna Sophia Kiang, Matthew Campbell, George M. Weinstock, Daniel C. Koboldt, Li Ding,

European Journal of Human Genetics

Genome InstabilityMendelian DisorderGenetic DisorderMedicineGeneticsChoroidal InvolvementPathologyMolecular GeneticsDominant MutationWhole-exome Sequencing CausesDisease Gene IdentificationChromosomal RearrangementMolecular Diagnostics

References

	Year	Citations

Page 1

Page 1