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Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene

The American Journal of Human Genetics · 2000 · Vol. 67(3) · pp. 737–744

Zemin Deng(New York State Psychiatric Institute)Jane H. MorseSusan L. Slager(New York State Psychiatric Institute)Nieves Cuervo(New York State Psychiatric Institute)Keith J. Moore(New York State Psychiatric Institute)George VenetosSergey Kalachikov(Columbia University)Eftìhia Cayanis(Columbia University)Stuart G. Fischer(Columbia University)Robyn J. Barst(Pediatrics and Genetics)Susan E. Hodge(New York State Psychiatric Institute)James A. Knowles✉(New York State Psychiatric Institute)

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Pulmonary Hypertension Research and Treatments Bone health and treatments Medical Imaging and Pathology StudiesBone morphogenetic protein receptorGeneBone morphogenetic proteinBMPR2Pulmonary hypertensionGeneticsMutationMedicineBiologyInternal medicine

MeSH terms

Amino Acid SequenceBase SequenceExonsHaplotypesHumansHypertension, PulmonaryIntronsMolecular Sequence DataMutationSoftwareSequence AlignmentProtein Serine-Threonine KinasesMicrosatellite RepeatsBone Morphogenetic Protein Receptors, Type II

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Pulmonary–Hepatic vascular Disorders (PHD)