A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations. [electronic resource]
Producer: 20180305Description: 2708-2718 p. digitalISSN:- 1949-2553
- Animals
- Arteriovenous Malformations -- diagnosis
- Biopsy
- Cell Line
- Comparative Genomic Hybridization
- Consanguinity
- DNA Mutational Analysis
- Female
- Gene Knockdown Techniques
- Genetic Association Studies
- Humans
- Hydrogenase -- chemistry
- Immunohistochemistry
- Iron-Sulfur Proteins
- Models, Molecular
- Mutation
- Neovascularization, Pathologic -- genetics
- Pedigree
- Phenotype
- Protein Conformation
- Pulmonary Artery -- abnormalities
- RNA Stability
- Radiography, Thoracic
- Tomography, X-Ray Computed
- Exome Sequencing
- Young Adult
- Zebrafish
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Publication Type: Journal Article
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