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

Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK
Circ Cardiovasc Genet. 2012 5 (3): 336-43

PMID: 22474227 · PMCID: PMC3380156 · DOI:10.1161/CIRCGENETICS.111.961888

MeSH Terms (20)

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

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