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Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome
Date
2018-07-26
Author
KAYHAN, GÜLSÜM
ERGÜN, MEHMET ALİ
Ergun, Sezen Guntekin
KULA, SERDAR
PERÇİN, Ferda Emriye
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Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License
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Background: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.
Subject Keywords
Genetics(clinical)
,
General Medicine
URI
https://hdl.handle.net/11511/68208
Journal
GENETIC TESTING AND MOLECULAR BIOMARKERS
DOI
https://doi.org/10.1089/gtmb.2017.0286
Collections
Graduate School of Informatics, Article
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G. KAYHAN, M. A. ERGÜN, S. G. Ergun, S. KULA, and F. E. PERÇİN, “Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome,”
GENETIC TESTING AND MOLECULAR BIOMARKERS
, pp. 474–480, 2018, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/68208.