Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
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Full title
Author / Creator
Keller, Annika , Westenberger, Ana , Sobrido, Maria J , García-Murias, Maria , Domingo, Aloysius , Sears, Renee L , Lemos, Roberta R , Ordoñez-Ugalde, Andres , Nicolas, Gael , da Cunha, José E Gomes , Rushing, Elisabeth J , Hugelshofer, Michael , Wurnig, Moritz C , Kaech, Andres , Reimann, Regina , Lohmann, Katja , Dobričić, Valerija , Carracedo, Angel , Petrović, Igor , Miyasaki, Janis M , Abakumova, Irina , Mäe, Maarja Andaloussi , Raschperger, Elisabeth , Zatz, Mayana , Zschiedrich, Katja , Klepper, Jörg , Spiteri, Elizabeth , Prieto, Jose M , Navas, Inmaculada , Preuss, Michael , Dering, Carmen , Janković, Milena , Paucar, Martin , Svenningsson, Per , Saliminejad, Kioomars , Khorshid, Hamid R K , Novaković, Ivana , Aguzzi, Adriano , Boss, Andreas , Le Ber, Isabelle , Defer, Gilles , Hannequin, Didier , Kostić, Vladimir S , Campion, Dominique , Geschwind, Daniel H , Coppola, Giovanni , Betsholtz, Christer , Klein, Christine and Oliveira, Joao R M
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Christer Betsholtz, Christine Klein, Maria Sobrido and colleagues report the identification of mutations in the gene encoding PDGF-B that cause idiopathic basal ganglia calcification. They also show that mice carrying hypomorphic
Pdgfb
alleles develop brain calcifications.
Calcifications in the basal ganglia are a common incidental finding...
Alternative Titles
Full title
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Authors, Artists and Contributors
Author / Creator
Westenberger, Ana
Sobrido, Maria J
García-Murias, Maria
Domingo, Aloysius
Sears, Renee L
Lemos, Roberta R
Ordoñez-Ugalde, Andres
Nicolas, Gael
da Cunha, José E Gomes
Rushing, Elisabeth J
Hugelshofer, Michael
Wurnig, Moritz C
Kaech, Andres
Reimann, Regina
Lohmann, Katja
Dobričić, Valerija
Carracedo, Angel
Petrović, Igor
Miyasaki, Janis M
Abakumova, Irina
Mäe, Maarja Andaloussi
Raschperger, Elisabeth
Zatz, Mayana
Zschiedrich, Katja
Klepper, Jörg
Spiteri, Elizabeth
Prieto, Jose M
Navas, Inmaculada
Preuss, Michael
Dering, Carmen
Janković, Milena
Paucar, Martin
Svenningsson, Per
Saliminejad, Kioomars
Khorshid, Hamid R K
Novaković, Ivana
Aguzzi, Adriano
Boss, Andreas
Le Ber, Isabelle
Defer, Gilles
Hannequin, Didier
Kostić, Vladimir S
Campion, Dominique
Geschwind, Daniel H
Coppola, Giovanni
Betsholtz, Christer
Klein, Christine
Oliveira, Joao R M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_527804
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_527804
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/ng.2723
