Harrison, Rachel E

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. [electronic resource] - Circulation Feb 2005 - 435-41 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1524-4539

10.1161/01.CIR.0000153798.78540.87 doi


Activin Receptors, Type I--genetics
Activin Receptors, Type II
Amino Acid Motifs--genetics
Amino Acid Substitution
Antigens, CD
Bone Morphogenetic Protein Receptors, Type II
Child
Child, Preschool
Codon, Nonsense
DNA Mutational Analysis
Endoglin
Exons--genetics
Female
Genetic Predisposition to Disease
Genotype
Germ-Line Mutation
Heart Defects, Congenital--genetics
Humans
Hypertension, Pulmonary--etiology
Infant
Infant, Newborn
Male
Mutation, Missense
Protein Serine-Threonine Kinases--genetics
RNA Splicing
Receptors, Cell Surface
Receptors, Transforming Growth Factor beta--genetics
Sequence Deletion
Signal Transduction--physiology
Telangiectasia, Hereditary Hemorrhagic--complications
Transforming Growth Factor beta--physiology
Vascular Cell Adhesion Molecule-1--genetics