Whole exome sequencing in thai patients with retinitis pigmentosa reveals novel mutations in six genes
Purpose. To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP). Methods. Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-...
Saved in:
Main Authors: | Worapoj Jinda, Todd D. Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Prapat Suriyaphol, Adisak Trinavarat, La Ongsri Atchaneeyasakul |
---|---|
Other Authors: | Mahidol University |
Format: | Article |
Published: |
2018
|
Subjects: | |
Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/34253 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Mahidol University |
Similar Items
-
Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes
by: Worapoj Jinda, et al.
Published: (2020) -
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis
by: La Ongsri Atchaneeyasakul, et al.
Published: (2018) -
Mutation analysis of the VMD2 gene in thai families with best macular dystrophy
by: La Ongsri Atchaneeyasakul, et al.
Published: (2018) -
Retinitis Pigmentosa
by: Wirasno, -
Published: (1990) -
Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patientsn
by: La Ongsri Atchaneeyasakul, et al.
Published: (2018)