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Mutations in the Gene Encoding IFT Dynein Complex Component..:
Schmidts, Miriam
;
Vodopiutz, Julia
;
Christou-Savina, Sonia
...
qt24q016kx. , 2013
Link:
https://escholarship.org/uc/item/24q016kx
RT Journal T1
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt24q016kx&Exemplar=1&LAN=DE A1 Schmidts, Miriam A1 Vodopiutz, Julia A1 Christou-Savina, Sonia A1 Cortés, Claudio R A1 McInerney-Leo, Aideen M A1 Emes, Richard D A1 Arts, Heleen H A1 Tüysüz, Beyhan A1 D'Silva, Jason A1 Leo, Paul J A1 Giles, Tom C A1 Oud, Machteld M A1 Harris, Jessica A A1 Koopmans, Marije A1 Marshall, Mhairi A1 Elçioglu, Nursel A1 Kuechler, Alma A1 Bockenhauer, Detlef A1 Moore, Anthony T A1 Wilson, Louise C A1 Janecke, Andreas R A1 Hurles, Matthew E A1 Emmet, Warren A1 Gardiner, Brooke A1 Streubel, Berthold A1 Dopita, Belinda A1 Zankl, Andreas A1 Kayserili, Hülya A1 Scambler, Peter J A1 Brown, Matthew A A1 Beales, Philip L A1 Wicking, Carol A1 UK10K A1 Duncan, Emma L A1 Mitchison, Hannah M PB eScholarship, University of California YR 2013 K1 Rare Diseases K1 Pediatric K1 Underpinning research K1 1.1 Normal biological development and functioning K1 Generic health relevance K1 Animals K1 Asians K1 Axoneme K1 Carrier Proteins K1 Child K1 Chlamydomonas K1 Cilia K1 Cytoplasmic Dyneins K1 Cytoskeleton K1 Ellis-Van Creveld Syndrome K1 Exome K1 Exons K1 Humans K1 Infant K1 Newborn K1 Intracellular Signaling Peptides and Proteins K1 Mutation K1 Protein Conformation K1 Proteomics K1 Whites K1 UK10K K1 Asian People K1 White People K1 Biological Sciences K1 Medical and Health Sciences K1 Genetics & Heredity JF qt24q016kx LK http://dx.doi.org/https://escholarship.org/uc/item/24q016kx DO https://escholarship.org/uc/item/24q016kx SF ELIB - SuUB Bremen
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