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. 2018 Oct 30;9(11):527. doi: 10.3390/genes9110527

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© 2018 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Compound heterozygous variants in latent transforming growth factor-beta-binding protein 2 (LTBP2) are associated with juvenile open angle glaucoma (JOAG). (A) Family with JOAG showing segregation of two variants of LTBP2. Affected individual is shown by filled symbol. (B) Shown also are the Sanger sequencing DNA chromatograms of LTBP2 for the normal (parents) and affected individuals. The mutated nucleotides are marked with arrows. (C) Amino acids conservation in orthologous species for the p.(Pro989Arg) and p.(Asn1745Lys) variants. The wild type residues (p.Pro989 and p.Asn1745) are represented with arrows.