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
about
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndromeReduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patientsThe Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorThe Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylationFishing the molecular bases of Treacher Collins syndromeParental origin of mutations in sporadic cases of Treacher Collins syndrome.Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.Cytogenetic and clinical assessment of a family with treacher collins syndrome.First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeGross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Anesthetic challenges and difficulties in the management of Treacher Collins syndrome.Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.Two extraordinarily severe cases of Treacher Collins syndrome.
P2860
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P2860
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
description
2002 nî lūn-bûn
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2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Screening of TCOF1 in patients ...... domain in the protein treacle
@ast
Screening of TCOF1 in patients ...... domain in the protein treacle
@en
Screening of TCOF1 in patients ...... domain in the protein treacle
@nl
type
label
Screening of TCOF1 in patients ...... domain in the protein treacle
@ast
Screening of TCOF1 in patients ...... domain in the protein treacle
@en
Screening of TCOF1 in patients ...... domain in the protein treacle
@nl
prefLabel
Screening of TCOF1 in patients ...... domain in the protein treacle
@ast
Screening of TCOF1 in patients ...... domain in the protein treacle
@en
Screening of TCOF1 in patients ...... domain in the protein treacle
@nl
P2093
P356
P1476
Screening of TCOF1 in patients ...... domain in the protein treacle
@en
P2093
A Splendore
M R Passos-Bueno
P356
10.1136/JMG.39.7.493
P407
P577
2002-07-01T00:00:00Z