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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. ; Omran, Heymut

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 typeArticle
Journal or Publication TitleThe 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
Date2012
InstitutionsMedicine > Lehrstuhl für Pathologie
Identification Number
ValueType
10.1016/j.ajhg.2012.08.016DOI
KeywordsOF-FUNCTION MUTATIONS; DNA-SEQUENCING DATA; LINKAGE ANALYSIS; DYNEIN ARM; GENE-PRODUCT; MICE LACKING; PROTEIN; DEFECTS; HYDROCEPHALUS; CHILDREN;
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID63281

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