Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author: Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul
Tübinger Autor(en):
Buchert, Rebecca
Grimmel, Mona
Haack, Tobias
Published in: Nature Communications (2022), Bd. 13 (1), Article 2306
Verlagsangabe: Nature Portfolio
Language: English
Full text: http://dx.doi.org/10.1038/s41467-022-30015-1
ISSN: 2041-1723
DDC Classifikation: 500 - Natural sciences and mathematics
Dokumentart: Article
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