Associated Papers
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.
Pan Z et al.
Molecular Genetics & Genomic Medicine, 2021
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Zhang C et al.
Journal of Clinical Laboratory Analysis, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
Yan YS et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.
Fujioka H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2008
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Splendore A et al.
Human Mutation, 2005
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.
Splendore A et al.
Journal of Medical Genetics, 2002
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