Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
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Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubulesXLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding.The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1.Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseMolecular dynamics simulation reveals insights into the mechanism of unfolding by the A130T/V mutations within the MID1 zinc-binding Bbox1 domain.Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.aura (mid1ip1l) regulates the cytoskeleton at the zebrafish egg-to-embryo transition.Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.
P2860
Q24803465-7893DBD4-CE2A-44C4-9A11-96809168BFBEQ30366739-BCE02819-DB97-4F80-80AF-69F1A7DBDAACQ30650786-6CD2C591-3AA1-4A2B-A062-F362E62C3B63Q33305715-E1BC6545-DC04-48EE-B42E-D8DAC17076AFQ33942130-70E574B5-FFF7-4C47-841F-E64BCAE51603Q35601459-585D4FF8-7520-4967-944E-AA8D2EF84D86Q36447391-C8A0249E-98F0-4162-8C55-70DFEB63BFCFQ37178223-A823B035-B33B-4A70-9BA9-B8A141B35B58Q49885121-AB38B81B-3C54-42DC-81EC-A706F565EB0A
P2860
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
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2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
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2003年论文
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name
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@ast
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@en
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@nl
type
label
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@ast
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@en
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@nl
prefLabel
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@ast
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@en
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@nl
P2093
P50
P1433
P1476
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
@en
P2093
Andreas Kulozik
Jennifer Winter
John Opitz
Steffen Lenzner
Susann Schweiger
Tanja Lehmann
Vanessa Suckow
Zofia Kijas
P2888
P304
P356
10.1007/S00439-002-0901-5
P407
P577
2003-03-01T00:00:00Z
P6179
1075223544