Additional file 1: of Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients
- Hang Yang (577653)
- Qixian Zeng (5198129)
- Yanyun Ma (339117)
- Bingyang Liu (2743360)
- Qianlong Chen (616354)
- Wenke Li (1702348)
- Changming Xiong (5198132)
- Zhou Zhou (154603)
Publication date
May 2018
DOIAbstract
Table S1. PAH panel genes. Table S2. Variants of unknown significance (VUS) detected in the panel genes. Table S3. CNVs in ENG and ACVRL1 by panelcn.MOPS and MLPA. Table S4. Genotype-phenotype correlation between biallelic EIF2AK4 mutations carriers and other PAH patients. Figure S1. Molecular genetic testing schedule. Figure S2. 4 HPAH families without an identified causative mutation. Figure S3. GC content in BMPR2, ENG and ACVRL1. (DOCX 1809 kb
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