Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. [electronic resource]
Producer: 20050711Description: 435-41 p. digitalISSN:- 1524-4539
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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