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

• Published in: Journal of medical genetics Vol. 39; no. 7; pp. 493 - 495
• Main Authors: Splendore, A, Jabs, E W, Passos-Bueno, M R
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.07.2002; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: 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
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.39.7.493