Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Di Huang, Jennifer A. Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang Chih Chen, Dan Zhang, Terri L. McLaren, Tina M. Lamey, Ian J. Constable, John N. De Roach, May Thandar Aung-Htut, Abbie Adams, Sue Fletcher, Steve D. Wilton, Fred K. Chen

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

Finished

MRFF - Developing Personalised Treatment for Retinal Degeneration
Chen, F. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/18 → 31/12/21
Project: Research
From discovery to therapy in genetic eye diseases
Mackey, D. (Investigator 01), Craig, J. (Investigator 02), Hewitt, A. (Investigator 03), Burdon, K. (Investigator 04), Jamieson, R. (Investigator 05), Grigg, J. (Investigator 06), MacGregor, S. (Investigator 07), Chen, F. (Investigator 08), Otlowski, M. (Investigator 09) & Schofield, D. (Investigator 10)
NHMRC National Health and Medical Research Council
1/01/16 → 31/12/20
Project: Research

Projects