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Hartig, Monika B. ; Iuso, Arcangela ; Haack, Tobias ; Kmiec, Tomasz ; Jurkiewicz, Elzbieta ; Heim, Katharina ; Roeber, Sigrun ; Tarabin, Victoria ; Dusi, Sabrina ; Krajewska-Walasek, Malgorzata ; Jozwiak, Sergiusz ; Hempel, Maja ; Winkelmann, Juliane ; Elstner, Matthias ; Oexle, Konrad ; Klopstock, Thomas ; Mueller-Felber, Wolfgang ; Gasser, Thomas ; Trenkwalder, Claudia ; Tiranti, Valeria ; Kretzschmar, Hans ; Schmitz, Gerd ; Strom, Tim M. ; Meitinger, Thomas ; Prokisch, Holger

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz , Jurkiewicz, Elzbieta , Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina , Krajewska-Walasek, Malgorzata , Jozwiak, Sergiusz , Hempel, Maja, Winkelmann, Juliane , Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria , Kretzschmar, Hans, Schmitz, Gerd , Strom, Tim M., Meitinger, Thomas and Prokisch, Holger (2011) Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation. The American Journal of Human Genetics 89 (4), pp. 543-550.

Date of publication of this fulltext: 19 Dec 2024 11:05
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Item typeArticle
Journal or Publication TitleThe American Journal of Human Genetics
Publisher:CELL PRESS
Place of Publication:CAMBRIDGE
Volume:89
Number of Issue or Book Chapter:4
Page Range:pp. 543-550
Date2011
InstitutionsMedicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin
Identification Number
ValueType
10.1016/j.ajhg.2011.09.007DOI
KeywordsGENE; MUTATIONS; DYSTONIA; DISEASE; PLA2G6; PANK2;
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID64489

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