Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
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Disorders of gastrointestinal hypomotilityDiagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 Gene.Localizations of γ-Actins in Skin, Hair, Vibrissa, Arrector Pili Muscle and Other Hair Appendages of Developing Rats.Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
P2860
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
@ast
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
@en
type
label
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
@ast
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
@en
prefLabel
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
@ast
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
@en
P2093
P2860
P50
P356
P1476
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
@en
P2093
Alkwin Wanders
Elisabet Gustafson
Iveta Tóthová
Niklas Dahl
P2860
P2888
P304
P356
10.1038/EJHG.2015.49
P577
2015-03-18T00:00:00Z