Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Li, Mengnan; Nishio, Shin-ya; Naruse, Chie; Riddell, Meghan; Sapski, Sabrina; Katsuno, Tatsuya; Hikita, Takao; Mizapourshafiyi, Fatemeh; Smith, Fiona M.; Cooper, Leanne T.; Lee, Min Goo; Asano, Masahide; Boettger, Thomas; Krueger, Marcus; Wietelmann, Astrid; Graumann, Johannes; Day, Bryan W.; Boyd, Andrew W.; Offermanns, Stefan; Kitajiri, Shin-ichiro; Usami, Shin-ichi; Nakayama, Masanori

doi:10.1038/s41467-020-15198-9

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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Li, M., Nishio, S.-y., Naruse, C., Riddell, M., Sapski, S., Katsuno, T., et al. (2020). Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. NATURE COMMUNICATIONS, 11(1): 1343. doi:10.1038/s41467-020-15198-9.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0007-1A78-6 Version Permalink: https://hdl.handle.net/21.11116/0000-0007-45BA-A

Genre: Journal Article

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Creators:
Li, Mengnan¹, Author
Nishio, Shin-ya, Author
Naruse, Chie, Author
Riddell, Meghan¹, Author
Sapski, Sabrina², Author
Katsuno, Tatsuya, Author
Hikita, Takao¹, Author
Mizapourshafiyi, Fatemeh¹, Author
Smith, Fiona M., Author
Cooper, Leanne T., Author
Lee, Min Goo, Author
Asano, Masahide, Author
Boettger, Thomas³, Author
Krueger, Marcus³, Author
Wietelmann, Astrid⁴, Author
Graumann, Johannes⁵, Author
Day, Bryan W., Author
Boyd, Andrew W., Author
Offermanns, Stefan², Author
Kitajiri, Shin-ichiro, Author
Usami, Shin-ichi, AuthorNakayama, Masanori¹, Author          more..

Affiliations:
1Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research, Max Planck Society, ou_2591702
2Pharmacology, Max Planck Institute for Heart and Lung Research, Max Planck Society, ou_2591696
3Cardiac Development and Remodeling, Max Planck Institute for Heart and Lung Research, Max Planck Society, ou_2591695
4Small Animal Magnetic Resonance Imaging, Max Planck Institute for Heart and Lung Research, Max Planck Society, ou_2591708
5Biomolecular Mass Spectrometry, Max Planck Institute for Heart and Lung Research, Max Planck Society, ou_2591705

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Dates: Published Online: 2020-03-12

Publication Status: Published online

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Identifiers: ISI: 000563527600004
DOI: 10.1038/s41467-020-15198-9

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Title: NATURE COMMUNICATIONS

Source Genre: Journal

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Pages: - Volume / Issue: 11 (1) Sequence Number: 1343 Start / End Page: - Identifier: ISSN: 2041-1723