Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
about
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disabilityNovel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.Nutrient-driven O-GlcNAc in proteostasis and neurodegeneration.Effects of hypo O-GlcNAcylation on Drosophila development.A novel variant in MED12 gene: Further delineation of phenotype.The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix.Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.A novel MED12 mutation: Evidence for a fourth phenotype.Thio-Linked UDP-Peptide Conjugates as O-GlcNAc Transferase Inhibitors.-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling
P2860
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P2860
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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2015年學術文章
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name
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@ast
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@en
type
label
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@ast
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@en
prefLabel
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@ast
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@en
P2093
P2860
P356
P1476
Nonsyndromic X-linked intellec ...... on [c.5922G>T (p.Glu1974His)].
@en
P2093
Arnold Munnich
Carlos Trujillo
Gaetan Lesca
Habib Bouazzi
Mohammad Khalid Alwasiyah
P2860
P304
P356
10.1002/CCR3.301
P577
2015-05-26T00:00:00Z