Literature citations
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L.; Blouin J.-L.; Pan Y.; Gehrig C.; Maiti A.K.; Scamuffa N.; Rossier C.; Jorissen M.; Armengot M.; Meeks M.; Mitchison H.M.; Chung E.M.K.; Delozier-Blanchet C.D.; Craigen W.J.; Antonarakis S.E.;
Proc. Natl. Acad. Sci. U.S.A. 99:10282-10286(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INVOLVEMENT IN CILD7; VARIANT CILD7 GLN-2997; VARIANTS LEU-34; ARG-639; CYS-654; ALA-1023; ALA-1038; GLY-1635; THR-3467; PRO-3758; VAL-4165 AND ILE-4170;
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Schwabe G.C.; Hoffmann K.; Loges N.T.; Birker D.; Rossier C.; de Santi M.M.; Olbrich H.; Fliegauf M.; Failly M.; Liebers U.; Collura M.; Gaedicke G.; Mundlos S.; Wahn U.; Blouin J.-L.; Niggemann B.; Omran H.; Antonarakis S.E.; Bartoloni L.;
Hum. Mutat. 29:289-298(2008)
Cited for: INVOLVEMENT IN CILD7; VARIANTS ALA-1023; ALA-1038; VAL-4165 AND ILE-4170;
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