Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome-Reference-Cited by-同舟云学术

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

Published:2020-05-19 Issue:8 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Bitarafan Fatemeh¹^ORCID,Razmara Ehsan²^ORCID,Khodaeian Mehrnoosh³,Keramatipour Mohammad⁴^ORCID,Kalhor Alireza⁵,Jafarinia Ehsan²,Garshasbi Masoud²^ORCID

Affiliation:

1. Department of Cellular and Molecular Biology North Tehran Branch Islamic Azad University Tehran Iran

2. Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Teheran Iran

3. Department of Medical GeneticsDeNA Laboratory Tehran Iran

4. Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran

5. Department of medical science Qom Branch Islamic Azad University Qom Iran

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1274

Reference36 articles.

1. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

2. ProTherm, version 4.0: thermodynamic database for proteins and mutants

3. UniProtKB/Swiss-Prot

4. Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections

5. DISULFIND: a disulfide bonding state and cysteine connectivity prediction server

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