Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
Olbrich, Heike, Schmidts, Miriam
, Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia
, Burgoyne, Tom
, Al Turki, Saeed, Hurles, Matthew E., Köhler, Gabriele, Schroeder, Josef, Nürnberg, Gudrun, Nürnberg, Peter, Chung, Eddie M.K., Reinhardt, Richard
, Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M. and Omran, Heymut
(2012)
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry.
The American Journal of Human Genetics 91 (4), pp. 672-684.
Date of publication of this fulltext: 19 Dec 2024 09:34
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| Item type | Article | ||||
| Journal or Publication Title | The American Journal of Human Genetics | ||||
| Publisher: | CELL PRESS | ||||
|---|---|---|---|---|---|
| Place of Publication: | CAMBRIDGE | ||||
| Volume: | 91 | ||||
| Number of Issue or Book Chapter: | 4 | ||||
| Page Range: | pp. 672-684 | ||||
| Date | 2012 | ||||
| Institutions | Medicine > Lehrstuhl für Pathologie | ||||
| Identification Number |
| ||||
| Keywords | OF-FUNCTION MUTATIONS; DNA-SEQUENCING DATA; LINKAGE ANALYSIS; DYNEIN ARM; GENE-PRODUCT; MICE LACKING; PROTEIN; DEFECTS; HYDROCEPHALUS; CHILDREN; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 63281 |
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