Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
about
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsHuman stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controlsRibosomopathies: mechanisms of disease.First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeTreacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Two extraordinarily severe cases of Treacher Collins syndrome.Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
P2860
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P2860
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
description
2009 nî lūn-bûn
@nan
2009 թուականին հրատարակուած գիտական յօդուած
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2009 թվականին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
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2009年论文
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name
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@ast
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en-gb
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@nl
type
label
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@ast
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en-gb
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@nl
prefLabel
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@ast
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en-gb
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@nl
P2093
P2860
P356
P1433
P1476
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
@en
P2093
Alessandra Splendore-Gordonos
Camila C Ornelas
Cibele Masotti
Nivaldo Alonso
Ricardo Moura
Têmis M Félix
P2860
P2888
P356
10.1186/1471-2350-10-136
P407
P577
2009-01-01T00:00:00Z
P5875
P6179
1043353494