Article
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
American journal of respiratory and critical care medicine - 15 Oct 2006
Zariwala Maimoona A, Leigh Margaret W, Ceppa Franck, Kennedy Marcus P, Noone Peadar G, Carson Johnny L, Hazucha Milan J, Lori Adriana, Horvath Judit, Olbrich Heike, Loges Niki T, Bridoux Anne-Marie, Pennarun Gaëlle, Duriez Bénédicte, Escudier Estelle, Mitchison Hannah M, Chodhari Rahul, Chung Eddie M K, Morgan Lucy C, de Iongh Robbert U, Rutland Jonathan, Pradal Ugo, Omran Heymut, Amselem Serge, Knowles Michael R
Abstract excerpt
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia. OBJECTIVES: We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported...
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