The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
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 factorA preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Ribosomopathies: Global process, tissue specific defectsFacial dysostoses: Etiology, pathogenesis and managementRibosome biogenesis in skeletal development and the pathogenesis of skeletal disordersFishing the molecular bases of Treacher Collins syndromePrevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study.A comprehensive review of the genetic basis of cleft lip and palateFirst Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeGross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndromeFace off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.Genetic Advances in the Understanding of Microtia.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.Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.Treacher Collins syndrome: A case report and review of ophthalmic featuresTreacher Collins syndrome with novel ophthalmic findings and visceral anomalies.Medical genetics: advances in brief: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
P2860
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P2860
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
description
1997 nî lūn-bûn
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1997 թուականի Մարտին հրատարակուած գիտական յօդուած
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1997 թվականի մարտին հրատարակված գիտական հոդված
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1997年の論文
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1997年論文
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1997年論文
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1997年論文
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1997年論文
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1997年論文
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1997年论文
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name
The mutational spectrum in Tre ...... a premature-termination codon
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The mutational spectrum in Tre ...... a premature-termination codon
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The mutational spectrum in Tre ...... a premature-termination codon
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type
label
The mutational spectrum in Tre ...... a premature-termination codon
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The mutational spectrum in Tre ...... a premature-termination codon
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The mutational spectrum in Tre ...... a premature-termination codon
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prefLabel
The mutational spectrum in Tre ...... a premature-termination codon
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The mutational spectrum in Tre ...... a premature-termination codon
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The mutational spectrum in Tre ...... a premature-termination codon
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P2093
P2860
P3181
P356
P1476
The mutational spectrum in Tre ...... a premature-termination codon
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P2093
A J Gladwin
S J Edwards
P2860
P304
P3181
P356
10.1136/JMG.34.8.700
P407
P577
1997-03-01T00:00:00Z