founder mutation

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1
Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.
Keicho, Naoto;Hijikata, Minako;Morimoto, Kozo;Homma, Sakae;Taguchi, Yoshio;Azuma, Arata;Kudoh, Shoji...
2019 molecular genetics & genomic medicine DOI: 10.1002/mgg3.1033 252 views
2
Extrapulmonary Tuberculosis: Pathophysiology and Imaging Findings.
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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
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2020 journal of molecular neuroscience : mn DOI: 10.1007/s12031-020-0... 249 views

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diffuse panbronchiolitis loss-of-function variant nexin-dynein regulatory complex primary ciliary dyskinesia sinopulmonary disease 3d structure novel mutation gaa gene infantile pompe disease