Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. (Q30580167)
Jump to navigation
Jump to search
scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. |
scientific article |
Statements
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects (English)
Claire Hogg
Hannah M Mitchison
Alexandros Onoufriadis
Mitali Patel
Gina Jimenez
Hui Liu
Biju Thomas
Mellisa Dixon
Robert A Hirst
Andrew Rutman
Juliet Scully
Florence Bolard
Jean-Jacques Lafitte
Philip L Beales
Pinfen Yang
Eddie M K Chung
Christopher O'Callaghan
UK10K
Patrice Bouvagnet
13 January 2017
1 reference
1 reference
1 reference
1 reference
1 reference