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A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations
Two daughters in a Chinese consanguineous family were diagnosed as diffuse pulmonary arteriovenous malformations (PAVMs) and screened using whole exome sequencing (WES) and copy number variations (CNVs) chips. Though no mutation was found in the established causative genes of capillary malformation-...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Impact Journals LLC
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356835/ https://www.ncbi.nlm.nih.gov/pubmed/27835862 http://dx.doi.org/10.18632/oncotarget.13156 |