Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
about
Alpha thalassaemia-mental retardation, X linkedFragile X and X-linked intellectual disability: four decades of discoveryThe role of genetics in the establishment and maintenance of the epigenome.Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.Genetic and epigenetic dysregulation of imprinted genes in the brain.Genetic syndromes caused by mutations in epigenetic genes.Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).A systematic review of genetic syndromes with obesity.Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice.Partial duplications of the ATRX gene cause the ATR-X syndrome.SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome
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P2860
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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name
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@en
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@nl
type
label
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@en
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@nl
prefLabel
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@en
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@nl
P2093
P2860
P356
P1476
Mutation in the 5' alternative ...... causes Chudley-Lowry syndrome.
@en
P2093
Albert E Chudley
Anne-Marie Lossi
Carlos Cardoso
Charles E Schwartz
Fatima E Abidi
Herbert A Lubs
Michel Fontes
Robert Brian Lowry
Roger E Stevenson
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201303
P577
2005-02-01T00:00:00Z