COL3A1 Missense Variant in a Patient Presenting With Hemoptysis-Reference-Cited by-同舟云学术

COL3A1 Missense Variant in a Patient Presenting With Hemoptysis

Published:2021-10 Issue:5 Volume:14 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Riaz Ahsun¹,Portocarrero Juan Pablo²,Hoel Andrew³,Yeldandi Anjana⁴^ORCID,Dellefave-Castillo Lisa⁵^ORCID,Paparello James²^ORCID,D′Amico Jane DeMatte²,Wilsbacher Lisa D.²⁶⁷^ORCID

Affiliation:

1. Department of Radiology (A.R.), Northwestern University Feinberg School of Medicine, Chicago, IL.

2. Department of Medicine (J.P.P., J.P., J.D.D., L.D.W.), Northwestern University Feinberg School of Medicine, Chicago, IL.

3. Department of Surgery (A.H.), Northwestern University Feinberg School of Medicine, Chicago, IL.

4. Department of Pathology (A.Y.), Northwestern University Feinberg School of Medicine, Chicago, IL.

5. Center for Genomic Medicine (L.D.-C.), Northwestern University Feinberg School of Medicine, Chicago, IL.

6. Feinberg Cardiovascular and Renal Research Institute (L.D.W.), Northwestern University Feinberg School of Medicine, Chicago, IL.

7. Department of Pharmacology (L.D.W.), Northwestern University Feinberg School of Medicine, Chicago, IL.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Link

https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.121.003386

Reference5 articles.

1. Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link

2. Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome

3. The mutational constraint spectrum quantified from variation in 141,456 humans

4. Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

5. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome