Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 81-84

  Lane, Kirk B ^a   Machado, Rajiv D ^d   Pauciulo, Michael W ^b   Thomson, Jennifer R ^d   Phillips III, John A ^a   Loyd, James E ^a   Nichols, William C ^b   Trembath, Richard C ^d   Aldred, Micheala ^d   Brannon, Christopher A ^b   Conneally, P Michael ^c   Foroud, Tatiana ^c   Fretwell, Neale ^d   Gaddipati, Radhika ^a   Koller, Daniel ^c   Loyd, Emily J ^a   Morgan, Neil ^d   Newman, John H ^a   Prince, Melissa A ^a   Güell, Carles Vilariño ^d   Wheeler, Lisa ^a   more..

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL PROLIFERATION; CONTROLLED STUDY; DIMERIZATION; ENZYME ACTIVITY; GENE MAPPING; GENE MUTATION; HUMAN; LIGAND BINDING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PULMONARY ARTERY OCCLUSION; PULMONARY HYPERTENSION; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CHROMOSOMES, HUMAN, PAIR 2; CLONING, MOLECULAR; DNA, COMPLEMENTARY; ENDOTHELIUM, VASCULAR; EXONS; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GERM-LINE MUTATION; HUMANS; HYPERTENSION, PULMONARY; INTRONS; LIGANDS; LINKAGE (GENETICS); LUNG; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SMOOTH; PEDIGREE; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; RECOMBINATION, GENETIC; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION;

EID: 0033817459     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79226     Document Type: Article

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