Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension

[...]genetic differences affecting penetrance of BMPR2 mutations between the two populations may also play a role. [...]the smaller sample size of both the Thomson et al and the Morisaki et al studies introduces the potential for overestimation of the prevalence of BMPR2 mutations in sporadic IPAH d...

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Bibliographic Details
Published in:Journal of medical genetics 2004-12, Vol.41 (12), p.e127-e127
Main Authors: Koehler, R, Grünig, E, Pauciulo, M W, Hoeper, M M, Olschewski, H, Wilkens, H, Halank, M, Winkler, J, Ewert, R, Bremer, H, Kreuscher, S, Janssen, B, Nichols, W C
Format: Article
Language:English
Subjects:
Adult
Amino Acid Sequence
Animals
BMPR2 mutation
Bone Morphogenetic Protein Receptors, Type II
Cohort Studies
Deoxyribonucleic acid
DNA
DNA Mutational Analysis
Family medical history
Gene expression
Gene Frequency
Genetic testing
genetics
Germany
Heart failure
Humans
Hypertension, Pulmonary - genetics
idiopathic pulmonary arterial hypertension
IPAH
Laboratories
Molecular Sequence Data
Mutation
Online Mutation Report
Pathogenesis
Patients
PPH
primary pulmonary hypertension
Protein-Serine-Threonine Kinases - genetics
Pulmonary arteries
Pulmonary hypertension
Reverse Transcriptase Polymerase Chain Reaction
Rodents
Sequence Alignment
Studies
TGF-β
transforming growth factor-β
unclassified variant
Veins & arteries
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Description
Summary:[...]genetic differences affecting penetrance of BMPR2 mutations between the two populations may also play a role. [...]the smaller sample size of both the Thomson et al and the Morisaki et al studies introduces the potential for overestimation of the prevalence of BMPR2 mutations in sporadic IPAH due to sampling error.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.023101