scholarly journals Faculty Opinions recommendation of Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

2013 ◽  
Author(s):  
Vinicio de Jesus Perez
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Caveolin 1 ◽  
Novel Gene ◽  
Whole Exome ◽  
Pulmonary Arterial

scholarly journals Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

2012 ◽  
Vol 5 (3) ◽  
pp. 336-343 ◽  
Author(s):  
Eric D. Austin ◽  
Lijiang Ma ◽  
Charles LeDuc ◽  
Erika Berman Rosenzweig ◽  
Alain Borczuk ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Caveolin 1 ◽  
Novel Gene ◽  
Whole Exome ◽  
Pulmonary Arterial

scholarly journals Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension

All Life ◽  
2021 ◽  
Vol 14 (1) ◽  
pp. 874-880
Author(s):  
Zi-Jun Jiao ◽  
Jie-Yuan Jin ◽  
Liang-Liang Fan ◽  
Zhuang-Zhuang Yuan ◽  
Yi Dong ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutation ◽  
Chinese Family ◽  
Whole Exome ◽  
Pulmonary Arterial

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome

scholarly journals Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy

Traffic ◽  
2016 ◽  
Vol 17 (12) ◽  
pp. 1297-1312 ◽  
Author(s):  
Bing Han ◽  
Courtney A. Copeland ◽  
Yumeko Kawano ◽  
Erika Berman Rosenzweig ◽  
Eric D. Austin ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Caveolin 1 ◽  
Congenital Generalized Lipodystrophy ◽  
Pulmonary Arterial
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