A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations. [electronic resource]
- Oncotarget Jan 2017
- 2708-2718 p. digital
Publication Type: Journal Article
1949-2553
10.18632/oncotarget.13156 doi
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