Detection of a novel silent deletion, a missense mutation and a nonsense mutation inTCOF1-Reference-Cited by-同舟云学术

Detection of a novel silent deletion, a missense mutation and a nonsense mutation inTCOF1

Published:2008-12 Issue:6 Volume:50 Page:806-809
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:

Author:

Fujioka Hirotaka,Ariga Tadashi,Horiuchi Katsumi,Ishikiriyama Satoshi,Oyama Kimie,Otsu Makoto,Kawashima Kunihiro,Yamamoto Yuhei,Sugihara Tsuneki,Sakiyama Yukio

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.2008.02650.x/fullpdf

Reference16 articles.

1. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene;Dixon;Genome Res,1997

2. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region;Wise;Proc. Natl Acad. Sci. USA,1997

3. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle;Marsh;Hum. Mol. Genet,1998

4. The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus;Winokur;Hum. Mol. Genet,1998

5. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor;Valdez;Proc. Natl Acad. Sci. USA,2004

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1. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity;Clinical Genetics;2022-10-17

2. A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome;Molecular Genetics and Genomics;2014-07-04

3. A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome;International Journal of Pediatric Otorhinolaryngology;2013-09

4. Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome;European Journal of Human Genetics;2012-02-08

5. Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome;BMC Medical Genetics;2011-09-27