Sporadiac primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family

Journal of Medical Genetics

Volumn 37, Issue 10, 2000, Pages 741-745

  Thomson, J R ^a   Rogers, P ^f   Newman, J ^g   Wheeler, L ^g   Higenbottam, T ^h   Gibbs, J S R ⁱ   Egan, J ^j   Crozier, A ^k   Peacock, A ^k   Allcock, R ^l   Corris, P ^l   Machado, R D ^a   Loyd, J E ^g   Trembath, R C ^a   Nichols, W C ^b   Pauciulo, M W ^b   Morgan, N V ^a   Humbert, M ^c   Elliott, G C ^d   Ward, K ^e   Yacoub, M ^f   Mikhail, G ^f   more..

^a UNIVERSITY OF LEICESTER   (United Kingdom)

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

^c HÔPITAL ANTOINE BÉCLÈRE   (France)

^d UNIVERSITY OF UTAH   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^g VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^h ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

ⁱ CHARING CROSS HOSPITAL   (United Kingdom)

^j WYTHENSHAWE HOSPITAL   (United Kingdom)

^k WESTERN GENERAL HOSPITAL   (United Kingdom)

^l FREEMAN HOSPITAL   (United Kingdom)

more..

Author keywords

BMPR II; BMPR2; Primary pulmonary hypertension; TGF

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR; DNA; RECEPTOR PROTEIN; TRANSFORMING GROWTH FACTOR BETA; BMPR2 PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; PROTEIN SERINE THREONINE KINASE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GERM LINE; HETEROZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RECEPTOR GENE; SCREENING; CHEMISTRY; CODON; GENETIC SCREENING; GENETICS; HETEROZYGOTE; MIDDLE AGED; MULTIGENE FAMILY; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PHYSIOLOGY; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; AGE OF ONSET; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CHILD; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; HYPERTENSION, PULMONARY; INTRONS; MALE; MIDDLE AGED; MULTIGENE FAMILY; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION;

EID: 0033623296     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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