The Treacher Collins syndrome ( TCOF1 ) gene product is involved in pre-rRNA methylation

By Gonzales Bianca  

Human Molecular Genetics, Vol. 14, Iss. 14, 2005-07 ,pp. : 2035-2043

Oxford University Press

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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

By Marsh K.L.   Dixon J.   Dixon M.J.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1795-1800

Oxford University Press

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Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle

By Jones Natalie C.   Farlie Peter G.   Minichiello Joe   Newgreen Don F.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2239-2245

Oxford University Press

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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

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Molecular Syndromology, Vol. 2, Iss. 2, 2012-01 ,pp. : 53-59

Karger

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Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene

By Gladwin Amanda J.   Dixon Jill   Loftus Stacie K.   Edwards Sara   Wasmuth John J.   Hennekam Raoul C. M.   Dixon Michael J.  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1533-1538

Oxford University Press

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