A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
- DOI
- 10.1186/s12886-023-02845-0
- Published
- 2023 Mar 23
- Container
- BMC ophthalmology
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1186/s12886-023-02845-0,
title = {A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.},
author = {Aziz N and Ullah M and Rashid A and Hussain Z and Shah K and Awan A and Khan M and Ullah I and Rehman AU},
year = {2023},
journal = {BMC ophthalmology},
doi = {10.1186/s12886-023-02845-0},
url = {https://doi.org/10.1186/s12886-023-02845-0}
}RIS
TY - JOUR TI - A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. AU - Aziz N AU - Ullah M AU - Rashid A AU - Hussain Z AU - Shah K AU - Awan A AU - Khan M AU - Ullah I AU - Rehman AU PY - 2023 JO - BMC ophthalmology DO - 10.1186/s12886-023-02845-0 UR - https://doi.org/10.1186/s12886-023-02845-0 ER -
APA
N, A., M, U., A, R., Z, H., K, S., A, A., M, K., I, U., & AU, R. (2023). A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.. BMC ophthalmology. https://doi.org/10.1186/s12886-023-02845-0
Source records
- pubmed · retrieved 2026-09-27T01:34:32.347Z