Zeitschriftenaufsatz
|
2015
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
Autor:in
Schiessl-Weyer, Jasmin; Roa, Pedro; Laccone, Franco; Kluge, Britta; Tichy, Alexander; De Almeida Ribeiro, Euripedes; Prohaska, Rainer; Stoeter, Peter; Siegl, Claudia; Salzer, Ulrich;
Publikationen als Autor:in / Herausgeber:in der Vetmeduni
Journal
Schlagwörter
Abetalipoproteinemia/diagnosis*; Abetalipoproteinemia/genetics; Abetalipoproteinemia/pathology; Acanthocytes/pathology*; Adolescent; Adult; Child; Cohort Studies; Dominican Republic; Enzyme Stability; Homozygote; Humans; Models, Molecular; Pantothenate Kinase-Associated Neurodegeneration/blood; Pantothenate Kinase-Associated Neurodegeneration/complications*; Pantothenate Kinase-Associated Neurodegeneration/genetics; Phosphotransferases (Alcohol Group Acceptor)/chemistry; Phosphotransferases (Alcohol Group Acceptor)/genetics*; Polymorphism, Single Nucleotide*; Young Adult;
Dokumententyp
Originalarbeit
CC Lizenz
CCBY
Open Access Type
Gold
ISSN/eISSN
1932-6203 -
10.1371/journal.pone.0125861
WoS ID
PubMed ID