Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

Abstract Background Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive or X‐linked disorder affecting ciliary function. In the set of causative genes, however, predominant pathogenic variants remain unknown in Asia. Method A diagnosis of PCD was made following a modern compreh...

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Bibliografski detalji
Glavni autori: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho
Format: Članak
Jezik:English
Izdano: Wiley 2019-08-01
Serija:Molecular Genetics & Genomic Medicine
Teme:
Asia
diffuse panbronchiolitis
DRC1
primary ciliary dyskinesia
recurrent mutation
Online pristup:https://doi.org/10.1002/mgg3.838

Internet

https://doi.org/10.1002/mgg3.838

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