Combined exome and whole-genome sequencing identifies...

Journal of Medical Genetics 2014 / 01 Vol. 51; Iss. 1

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Onoufriadis, A., Shoemark, A., Munye, M. M., James, C. T., Schmidts, M., Patel, M., Rosser, E. M., Bacchelli, C., Beales, P. L., Scambler, P. J., Hart, S. L., Danke-Roelse, J. E., Sloper, J. J., Hull,
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Volume:
51
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2013-101938
Date:
January, 2014
File:
PDF, 8.34 MB
english, 2014
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