Author:
Gonzales Bianca,Henning Dale,So Rolando B.,Dixon Jill,Dixon Michael J.,Valdez Benigno C.
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Reference31 articles.
1. Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M. and Jabs, E.W. (1997) TCOFI gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc. Natl Acad. Sci. USA, 94, 3110–3115.
2. Edwards, S.J., Gladwin, A.J. and Dixon, M.J. (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon. Am. J. Hum. Genet., 60, 515–524.
3. Marszalek, B., Wojcicki, P., Kobus, K. and Trzeciak, W.H. (2002) Clinical features, treatment and genetic background of Treacher Collins syndrome. J. Appl. Genet., 43, 223–233.
4. Splendore, A., Silva, E.O., Alonso, L.G., Richieri-Costa, A., Alonso, N., Rosa, A., Carakushanky, G., Cavalcanti, D.P., Brunoni, D. and Passos-Bueno, M.R. (2000) High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum. Mutat., 16, 315–322.
5. Splendore, A., Jabs, E.W. and Passos-Bueno, M.R. (2002) 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. J. Med. Genet., 39, 493–495.
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