About: Paternal mosaicism of an STXBP1 mutation in OS

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scientific article published on 10 November 2010

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2010 (fr) наукова стаття, опублікована в листопаді 2010 (uk) im November 2010 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 10 November 2010 (en) 2010 թվականի նոյեմբերի 10-ին հրատարակված գիտական հոդված (hy) artículu científicu espublizáu en payares de 2010 (ast)
publication date	wds:Q59697645-DBA22A80-56BC-45BA-870A-2D7FAD18B950
publication date	2010-11-10 00:00:00Z (xsd:dateTime)
author name string	wds:Q59697645-1BDB3266-5BE1-4F97-A991-5B8EFE5E9686 wds:Q59697645-49B3AA91-76EF-4BC7-9EE2-9EFD1A959343 wds:Q59697645-4AA9FC11-5839-4A55-A365-620463140E08 wds:Q59697645-65B0D956-FA19-4F38-9979-7D22A12B6559 wds:Q59697645-7FEE8016-8594-41BB-9A96-EB2BAFCA2B35 wds:Q59697645-8AF1157D-3730-4DAD-B1B2-E5768AAE7F68 wds:Q59697645-DDBF6A0F-1FBF-450C-862F-640FAF434B1D wds:Q59697645-E3539FB0-5FAC-4481-84FF-8B4189C0A500
author name string	H Hoshino Y Yoneda K Nishiyama H Doi N Matsumoto N Miyake K Hayasaka I Okada
rdfs:label	Paternal mosaicism of an STXBP1 mutation in OS (en) Paternal mosaicism of an STXBP1 mutation in OS (nl)
skos:prefLabel	Paternal mosaicism of an STXBP1 mutation in OS (en) Paternal mosaicism of an STXBP1 mutation in OS (nl)
name	Paternal mosaicism of an STXBP1 mutation in OS (en) Paternal mosaicism of an STXBP1 mutation in OS (nl)
author	wds:Q59697645-06869964-A116-4E50-8E86-75F24CCFD995 wds:Q59697645-902BF650-7763-40DC-9DB2-66531AE86524 wds:Q59697645-918C4842-15AE-4DA5-961B-A7E150D2660B wds:Q59697645-C34AB73D-23A8-4732-B1DC-11427BD62770
author	Yoshinori Tsurusaki Hirotomo Saitsu Masaya Kubota Mitsuhiro Kato
title	wds:Q59697645-77C1B982-76BC-49EA-B965-CB7E18911BB8
title	Paternal mosaicism of an STXBP1 mutation in OS (en)
page(s)	wds:Q59697645-C452F4F0-1CAD-4519-9C90-2DC4415C743A
page(s)	484-488
instance of	wds:Q59697645-7718E40D-7A16-4831-959D-25034021FABD
instance of	scholarly article
PubMed ID	wds:Q59697645-545789FB-B4F7-4FC4-90DF-276A4A1882B1
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/21062273
PubMed ID	21062273
published in	wds:Q59697645-F8BDEC7B-6ABF-41AA-AD8F-2C332B95CC59
published in	Clinical Genetics
issue	wds:Q59697645-A0C8318E-EC61-4025-A2DE-D5F36B74927E
volume	wds:Q59697645-14146AFC-2440-4052-9DEB-71D604BE64CB
issue	5
volume	80
DOI	wds:Q59697645-B4F687E0-F09D-43E0-AEF5-56DC9A9D3391
DOI	http://dx.doi.org/10.1111/J.1399-0004.2010.01575.X
DOI	10.1111/J.1399-0004.2010.01575.X
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q59697645
is cites work of	Emerging role of the KCNT1 Slack channel in intellectual disability Syntaxin binding protein 1 is not required for allergic inflammation via IgE-mediated mast cell activation De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. The trans-SNARE-regulating function of Munc18-1 is essential to synaptic exocytosis Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy. Mosaicism and incomplete penetrance of mutations Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review
is cites work of	wds:Q34618887-C3017B26-234A-4EAD-99C2-396C56B9EB54 wds:Q30418208-D877B4AE-5B00-412E-B851-592B6E2FAAF7 wds:Q50036814-231320E6-E2E9-4120-AC01-BA53EF2F9BEA wds:Q36344941-2DAA658D-AAB7-4729-B7EE-D96A39BDDF15 wds:Q33958421-50552AF9-548F-44C8-80BA-AD1F32BDE8D1 wds:Q57028475-30B7D463-E1BF-41D3-A87E-93AD0857E404 wds:Q64991212-69303D4F-D5DD-40A5-9287-265F18DED357 wds:Q28297699-B476BAA3-E090-41CD-9AFC-6DAA2A46DD52 wds:Q88543040-F661F929-D390-4A8F-8994-5B6D6F36F5FD

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