A novel FBN1 gene mutation associated with earlyonset pneumothorax in Marfan syndrome
Author:
Affiliation:
1. Department of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2016/013/JGM-13-041.pdf
Reference19 articles.
1. The molecular genetics of Marfan syndrome and related microfibrillopathies
2. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in theFBN1gene
3. Dong J, Bu J, Du W, Li Y, Jia Y, and Li J et al. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family. Mol Vis 2012;18:81-6.
4. Abdelrahim M, Khalid KEL, Faris ME, Hassan MA, Elsiddig K, and Muhammed AS et al. Review of FBN1 gene role in Marfan syndrome presentations insilico analysis. Am J Biomed Res 2016;4:5-12.
5. Marfan Syndrome-causing Mutations in Fibrillin-1 Result in Gross Morphological Alterations and Highlight the Structural Importance of the Second Hybrid Domain
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