Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation - 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; et al. (American journal of respiratory and critical care medicine, 2006)
Keywords: A. Airway Biology; Adolescent; Adult; Aged; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Axonemal Dyneins; Biological and medical sciences; Blood and lymphatic vessels; Blood. Blood coagulation. Reticuloendothelial system; Cardiology. Vascular system; Child; Child, Preschool; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; DNA; DNA - genetics; Dyneins; Dyneins - genetics; Exons; Female; Founder Effect; Gene Frequency; Genetics; Genotype; Human genetics; Human health and pathology; Humans; Infant; Intensive care medicine; Kartagener Syndrome; Kartagener Syndrome - genetics; Life Sciences; Male; Medical sciences; Mutation; Pedigree; Pharmacology. Drug treatments; Phenotype; Polymerase Chain Reaction; Pulmonology and respiratory tract; Nervous system diseases; Intensive care; Enzyme; Cardiovascular disease; Dynein ATPase; Kartagener syndrome; Congenital disease; Dextrocardia; Cerebral disorder; Involuntary movement; dynein; Heart disease; Central nervous system disease; Hydrolases; Mutation; Neurological disorder; Resuscitation; Extrapyramidal syndrome; Cilia; Dyskinesia; mutation; cilia; dextrocardia