Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

Author: Bonifert, Tobias; Karle, Kathrin N.; Tonagel, Felix; Batra, Marion; Wilhelm, Christian; Theurer, Yvonne; Schoenfeld, Caroline; Kluba, Torsten; Kamenisch, York; Carelli, Valerio; Wolf, Julia; Gonzalez, Michael A.; Speziani, Fiorella; Schuele, Rebecca; Zuechner, Stephan; Schoels, Ludger; Wissinger, Bernd; Synofzik, Matthis
Tübinger Autor(en):
Bonifert, Tobias
Tonagel, Felix
Batra, Marion
Theurer, Yvonne
Kluba, Torsten
Kamenisch, York
Wolf, Julia
Wissinger, Bernd
Karle, Kathrin Nora
Schönfeld, Caroline
Schüle-Freyer, Rebecca
Schöls, Ludger
Synofzik, Matthis Benjamin
Published in: Brain (2014), Bd. 137, S. 2164-2177
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/brain/awu165
ISSN: 0006-8950
DDC Classifikation: 610 - Medicine and health
570 - Life sciences; biology
Dokumentart: Artikel
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