Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Hinderhofer, Katrin ^a   Fischer, Christine ^a   Pfarr, Nicole ^a,b   Szamalek Hoegel, Justyna ^a   Lichtblau, Mona ^b   Nagel, Christian ^b   Egenlauf, Benjamin ^b   Ehlken, Nicola ^b   Grünig, Ekkehard ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; TRANSFORMING GROWTH FACTOR BETA; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN; SMAD8 PROTEIN;

ADULT; ARTICLE; BLOOD PRESSURE MEASUREMENT; BMPR2 GENE; DOPPLER ECHOGRAPHY; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; EXERCISE; FAMILY SIZE; FEMALE; FOLLOW UP; GENE INSERTION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEART CATHETERIZATION; HERITABLE PULMONARY ARTERIAL HYPERTENSION; HUMAN; HYPERTENSION; MALE; MORTALITY; MUTATIONAL ANALYSIS; PULMONARY ARTERY; PULMONARY HYPERTENSION; RNA ANALYSIS; RNA SPLICING; SYSTOLIC BLOOD PRESSURE; ASYMPTOMATIC DISEASE; FAMILIAL PRIMARY PULMONARY HYPERTENSION; GENETICS; GENOTYPE; INTRON; MOLECULAR BIOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS;

ACTIVIN RECEPTORS, TYPE II; ADULT; ANTIGENS, CD; ASYMPTOMATIC DISEASES; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; FAMILIAL PRIMARY PULMONARY HYPERTENSION; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INTRONS; MALE; MOLECULAR BIOLOGY; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, RNA; SMAD8 PROTEIN;

EID: 84897980984     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0091374     Document Type: Article

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