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. 2020 Nov 25;10(4):2045894019885357. doi: 10.1177/2045894019885357

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© The Author(s) 2020

Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).

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Fig. 1. — Pedigree, clinical diagnostic and genetic analysis of HHT1 patient. (a) The photo of computed tomographic pulmonary angiography of patient. Pulmonary arteriovenous aneurysm is marked by red arrow; (b) pedigree of the patient and her normal relatives, the patient is marked by black arrow; (c) genetic analysis of the patient. The nucleotide substitution c.88T > C of ENG was found in exon2. The mutation is marked by red arrow; (d) schematic representation of extracellular domain of ENG. Two pairs of disulfide bonds and C30R substitution at the OR domain of ENG were marked.

AVM: arteriovenous malformations.