Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations-Reference-Cited by-同舟云学术

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

Published:2008-02 Issue:2 Volume:29 Page:289-298
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Schwabe Georg C.,Hoffmann Katrin,Loges Niki Tomas,Birker Daniel,Rossier Colette,de Santi Margherita M.,Olbrich Heike,Fliegauf Manfred,Failly Mike,Liebers Uta,Collura Mirella,Gaedicke Gerhard,Mundlos Stefan,Wahn Ulrich,Blouin Jean-Louis,Niggemann Bodo,Omran Heymut,Antonarakis Stylianos E.,Bartoloni Lucia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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4. 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;Proc Natl Acad Sci USA,2002

5. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening;Bobadilla;Hum Mutat,2002

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