BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 19, 2008, Pages 2551-2556

  Rigelsky, Christina M ^a,b   Jennings, Constance ^a   Lehtonen, Rainer ^c   Minai, Omar A ^a   Eng, Charis ^a,b,d   Aldred, Micheala A ^a,b,d  

^a LERNER RESEARCH INSTITUTE   (United States)

^b TAUSSIG CANCER INSTITUTE   (United States)

^c UNIVERSITY OF HELSINKI   (Finland)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

BMPR2 mutation; Hereditary hemorrhagic telangiectasia; Pulmonary hypertension

Indexed keywords

PROSTANOID; WARFARIN;

ACTIVIN RECEPTOR LIKE KINASE 1 GENE; ADULT; ARTICLE; BMPR2 GENE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ENDOGLIN GENE; EPISTAXIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEMOPTYSIS; HUMAN; LUNG ANGIOGRAPHY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PULMONARY ARTERIOVENOUS FISTULA; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE; SMAD4 GENE;

ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; FEMALE; GERM-LINE MUTATION; HUMANS; HYPERTENSION, PULMONARY; MODELS, BIOLOGICAL; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 55449130745     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32468     Document Type: Article

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