Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle - Splendore, A; Jabs, E W; Passos-Bueno, M R (Journal of medical genetics, 2002)
Keywords: Biological and medical sciences; Chromosome Mapping; Diseases of the osteoarticular system; DNA Mutational Analysis - methods; Genetic Testing - methods; Genetics, Population; Humans; Kinases; Letter to JMG; Localization; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Mandibulofacial Dysostosis - genetics; Medical sciences; Mutation; Mutation, Missense - genetics; Nuclear Proteins - genetics; Nuclear Proteins - physiology; Patients; Phosphoproteins - genetics; Phosphoproteins - physiology; Polymorphism, Single-Stranded Conformational; Protein Structure, Secondary - genetics; Protein Structure, Secondary - physiology; Proteins; TCOF1; Treacher Collins syndrome; treacle protein; Human; Stomatology; Pathogenesis; Gene product; Diseases of the osteoarticular system; Genetic determinism; Biological activity; Genetic disease; Treacher Collins syndrome; Missense mutation; Gene; Cohort study; Mutation; Mandibulofacial dysostosis; Maxillary disease