Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma

Author:

Tejan-Kamara Aminatta Z.ORCID,Boese Erin A.,Pouw Andrew E.,Sears Nathan C.ORCID,Roos Ben R.,Stone Edwin M.,Scheetz Todd E.ORCID,Fingert John H.ORCID

Publisher

Elsevier BV

Subject

General Medicine

Reference7 articles.

1. Identification of a gene that causes primary open angle glaucoma;Stone;Science,1997

2. Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma;Mackay;PLoS ONE,2015

3. Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing;Liu;Mol Vis,2020

4. EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma;Collantes;Hum Mutat,2022

5. Exome-based investigation of the genetic basis of human pigmentary glaucoma;van der Heide;BMC Genomics,2021

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