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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

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Bibliographic Details
Published in:	Journal of medical genetics 2002-07, Vol.39 (7), p.493-495
Main Authors:	Splendore, A, Jabs, E W, Passos-Bueno, M R
Format:	Article
Language:	English
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
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