Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

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http://www.wikidata.org/entity/Q21261499

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2011 nî lūn-bûn

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2011 թուականին հրատարակուած գիտական յօդուած

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2011 թվականին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@ast

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en-gb

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@nl

type

Item

label

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@ast

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en-gb

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@nl

prefLabel

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@ast

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en-gb

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@nl

P1476

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

@en

P2093

Chiara Conte

http://www.w3.org/2001/XMLSchema#string

Fabrizio Rinaldi

http://www.w3.org/2001/XMLSchema#string

Maria Rosaria D'Apice

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P2860

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

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

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

P2888

1471-2350-12-125

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125

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scholarly article

P356

10.1186/1471-2350-12-125

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English

P433

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P478

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Giuseppe Novelli

Stefano Gambardella

Federica Sangiuolo

P577

2011-09-27T00:00:00Z

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51666712

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1023932264

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21951868

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3199234

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