Truncating mutations in exons 20 and 21 of...

Journal of Medical Genetics 2019 / 07

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Bukowy-Bieryllo, Zuzanna, Rabiasz, Alicja, Dabrowski, Maciej, Pogorzelski, Andrzej, Wojda, Alina, Dmenska, Hanna, Grzela, Katarzyna, Sroczynski, Jakub, Witt, Michal, Zietkiewicz, Ewa
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Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2018-105918
Date:
July, 2019
File:
PDF, 4.20 MB
english, 2019
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