Article
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
American journal of respiratory and critical care medicine - 15 Mar 2014
Knowles Michael R, Ostrowski Lawrence E, Leigh Margaret W, Sears Patrick R, Davis Stephanie D, Wolf Whitney E, Hazucha Milan J, Carson Johnny L, Olivier Kenneth N, Sagel Scott D, Rosenfeld Margaret, Ferkol Thomas W, Dell Sharon D, Milla Carlos E, Randell Scott H, Yin Weining, Sannuti Aruna, Metjian Hilda M, Noone Peadar G, Noone Peter J, Olson Christina A, Patrone Michael V, Dang Hong, Lee Hye-Seung, Hurd Toby W, Gee Heon Yung, Otto Edgar A, Halbritter Jan, Kohl Stefan, Kircher Martin, Krischer Jeffrey, Bamshad Michael J, Nickerson Deborah A, Hildebrandt Friedhelm, Shendure Jay, Zariwala Maimoona A
Abstract excerpt
RATIONALE: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause is not defined for all patients with PCD. OBJECTIVES: To identify disease-causing mutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies in patients with PCD. METHODS: Whole-exome sequencing was...
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