Work

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Year: 2015

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2015.07.009

Authors: Jennifer J. Johnston, Monica Y. Sanchez-Contreras, Kim M. Keppler-Noreuil, Julie Sapp, Molly Crenshaw, NiCole A. Finch, Valerie Cormier-Daire, Rosa Rademakers, Virginia P. Sybert, Leslie G. Biesecker

Institutions: National Institutes of Health, National Human Genome Research Institute, Mayo Clinic, Mayo Clinic in Florida, Hôpital Necker-Enfants Malades, Inserm, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine, Université Paris Descartes, Group Health Cooperative, University of Washington

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Institute of Neurological Disorders and Stroke

Award: Genetics and Molecular Biology of Parkinsonism

OpenAlex ID: W1732611826

FWCI: 5.018

Cites: 18

Cited by: 82

Related to: 10