Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
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Ribosomopathies: Global process, tissue specific defectsAnalysis of genome-wide copy number variations in Chinese indigenous and western pig breeds by 60 K SNP genotyping arraysUnderstanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndromeA review of craniofacial disorders caused by spliceosomal defects.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
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Q26781112-101C09E5-0520-4DAC-88BE-295248210788Q34149825-A97E983E-5449-48D2-A447-E83F7C4D8BC6Q35687114-FC071067-7646-431C-B7D3-B6AF3A66F890Q38417433-A0246414-9564-41CE-9394-7448AD60685EQ41192966-EEBBF185-6E09-4AC1-ACC7-8F8E9F92C74FQ42130063-A50E61F5-4CF8-49C8-8069-91FDC7B9A715Q49652010-B92AC052-B7C1-440D-89C9-57A2869E56D4
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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name
Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@en
Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@nl
type
label
Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@en
Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@nl
prefLabel
Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@en
Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@nl
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Autosomal recessive POLR1D mut ...... for Treacher Collins syndrome.
@en
P2093
Bérénice Doray
Chantal Bolender
Dagmar Wieczorek
David Genevieve
Dietmar R Lohmann
Elise Schaefer
Gudrun Nürnberg
Lionel van Maldergem
Maria-Rita Passos-Bueno
Marie-Madeleine Eliot
P2860
P2888
P304
P356
10.1038/GIM.2014.12
P407
P577
2014-03-06T00:00:00Z