Whole exome sequencing to identify a novel gene (Caveolin-1) associated with human pulmonary arterial hypertension

Circulation: Cardiovascular Genetics

Volumn 5, Issue 3, 2012, Pages 336-343

  Austin, Eric D ^a   Ma, Lijiang ^b   LeDuc, Charles ^b   Rosenzweig, Erika Berman ^b   Borczuk, Alain ^b   Phillips, John A ^a   Palomero, Teresa ^b   Sumazin, Pavel ^b   Kim, Hyunjae R ^b   Talati, Megha H ^a   West, James ^a   Loyd, James E ^a   Chung, Wendy K ^b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b NewYork Presbyterian Hospital   (United States)

Author keywords

BMPR2; Caveolae; Genetics; Pulmonary hypertension

Indexed keywords

CAVEOLIN 1;

ARTICLE; CLINICAL ARTICLE; ENDOTHELIUM CELL; EXOME; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IDIOPATHIC DISEASE; IMMUNOHISTOCHEMISTRY; MALE; PEDIGREE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; WESTERN BLOTTING;

ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CAVEOLIN 1; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPERTENSION, PULMONARY; IMMUNOHISTOCHEMISTRY; INFANT; LUNG; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 84864330965     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.961888     Document Type: Article

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