Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

10.1371/journal.pone.0198086

Saved in:

Bibliographic Details
Main Authors:	Sudha D., Neriyanuri S., Sachidanandam R., Natarajan S.N., Gandra M., Tharigopala A., Sivashanmugam M., Alameen M., Vetrivel U., Gopal L., Khetan V., Raman R., Sen P., Chidambaram S., Arunachalam J.P.
Other Authors:	OPHTHALMOLOGY
Format:	Article
Published:	2019
Subjects:	retinoschisin eye protein RS1 protein, human amino acid substitution Article bioinformatics carboxy terminal sequence cell culture child clinical article cohort analysis computer model controlled study disease severity electroretinogram electroretinography frameshift mutation gene gene sequence genetic engineering genetic screening genetic variation genotype phenotype correlation human hydrophilicity hydrophobicity in vitro study infant male mutational analysis optical coherence tomography phenotypic variation preschool child protein analysis protein function protein localization protein secondary structure protein secretion refraction error retinoschisis RS1 gene sequence homology visual acuity X chromosome linked disorder adolescent adult animal chemistry Chlorocebus aethiops CV-1 cell line genetics genotype metabolism molecular model mutation phenotype protein conformation secretion (process) severity of illness index young adult Adolescent Adult Animals Cercopithecus aethiops Child Child, Preschool COS Cells Eye Proteins Genotype Humans Male Models, Molecular Mutation Phenotype Protein Conformation Retinoschisis Severity of Illness Index Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161224
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	National University of Singapore

Be the first to leave a comment!