A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
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Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy.Conserved regions of the DMD 3' UTR regulate translation and mRNA abundance in cultured myotubesThe clinical significance of small copy number variants in neurodevelopmental disordersEfficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules.Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Astrogliosis and impaired aquaporin-4 and dystrophin systems in idiopathic normal pressure hydrocephalus.HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.
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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 31 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A 3-base pair deletion, c.9711 ...... ty without muscular dystrophy.
@en
A 3-base pair deletion, c.9711 ...... ty without muscular dystrophy.
@nl
type
label
A 3-base pair deletion, c.9711 ...... ty without muscular dystrophy.
@en
A 3-base pair deletion, c.9711 ...... ty without muscular dystrophy.
@nl
prefLabel
A 3-base pair deletion, c.9711 ...... ty without muscular dystrophy.
@en
A 3-base pair deletion, c.9711 ...... ty without muscular dystrophy.
@nl
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A 3-base pair deletion, c.9711 ...... ity without muscular dystrophy
@en
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Arjan P M de Brouwer
Astrid R Oudakker
Ben C J Hamel
Bert B A de Vries
Helger G Yntema
Jamel Chelly
Jannet M Hordijk-Hos
Johan T den Dunnen
Krysta Voesenek
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10.1038/EJHG.2013.169
P577
2013-07-31T00:00:00Z