About: Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

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About: Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females Goto Sponge NotDistinct Permalink

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scientific article published on 01 August 2001

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2001 (uk) مقالة علمية تنشرت ف 1 غشت 2001 (ary) article scientifique publié en 2001 (fr) im August 2001 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'agostu de 2001 (ast) scientific article published on 01 August 2001 (en)
publication date	wds:Q74453611-F2E91FD3-F731-42E6-9A6B-7885202A72C7
publication date	2001-08-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q74453611-134F99E8-8D3D-46E0-8543-31D54FEEBEE9 wds:Q74453611-18B0FCB1-2A53-4F26-A263-E7E935FF4444 wds:Q74453611-19002A37-D374-49F1-98C2-38D25B3023BE wds:Q74453611-3599E264-E659-41C6-B490-9E5314BA2882 wds:Q74453611-40E8B406-1EAD-46E0-9A69-15128BAB7779 wds:Q74453611-44C3FBD4-D09C-4033-89F0-5A54B9ED8198 wds:Q74453611-556C2744-6D62-4EC2-93B2-CE24E7EE818F wds:Q74453611-558DD3FA-279A-4E4D-B722-A714307A39CA wds:Q74453611-57A3A78E-E8D1-4D26-A703-EF322EE71778 wds:Q74453611-64783B6C-D639-46C9-BDBD-0EEC8674A37B wds:Q74453611-6D5ECC47-C62D-4947-9FE6-B66DCA9DE011 wds:Q74453611-6F49B618-4ECD-4DFF-8476-B30C05466DFB wds:Q74453611-758632AF-BA3D-4D8C-BA3C-E0123E02E274 wds:Q74453611-7D7003E5-88DB-436A-A1FC-1BC4ACEE94FD wds:Q74453611-7ECCA595-F965-47B4-B60E-74A07C3F9EE8 wds:Q74453611-81028961-1D09-429B-8491-C618C45989D9 wds:Q74453611-8A364A5F-CC1F-4E0E-B00A-4A6F9987D271 wds:Q74453611-935D5F12-DF79-437E-8753-B693DCF3D100 wds:Q74453611-B03ADD7E-441E-41B0-B309-34D83DBFCF76 wds:Q74453611-B19F1FA2-E79C-413B-9597-422651289D56 wds:Q74453611-B6605C44-CA56-4B66-ABCF-2380579D51A0 wds:Q74453611-BFEEE12A-62B5-44C2-B06C-C64E9128651E wds:Q74453611-C5C89E5C-657C-4DD4-B980-A1F5CB20E59F wds:Q74453611-D2C4977D-CBD6-4E2D-AE1D-FA5F23801FA7 wds:Q74453611-EDFB6ACD-65AE-404F-B580-6C9C60EAD336 wds:Q74453611-F24410C8-58C6-4C73-9972-170D16224DCA wds:Q74453611-FCD6A787-F6DB-4EC6-851C-6B1D8F94BE08 wds:Q74453611-FEFB8B5A-D23B-4A2C-817F-CCC95F1BB51D
author name string	F Andermann S F Berkovic N W Wood C A Walsh J W Fox P H Dixon J S Duncan E Andermann M Berg R Kuzniecky V L Sheen K Silver F Dubeau S M Sisodiya S C Schachter S E Hong A J Cole F DiMario D Schomer A Wilner E Bromfield G H Mochida J Wheless K Kamuro L Kinton M Biber P Crino R Henchy
rdfs:label	Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (en) Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (nl)
skos:prefLabel	Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (en) Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (nl)
name	Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (en) Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (nl)
author	wds:Q74453611-4D64497A-23BE-4A2A-9EB3-EB68579F8D0A wds:Q74453611-C0E973DC-F8CE-4A61-8EA0-3C6747342D66
author	Ingrid Scheffer William B. Dobyns
title	wds:Q74453611-4FD2E066-F6AF-4EF4-BEDE-4470E189886A
title	Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females (en)
page(s)	wds:Q74453611-FB8C5154-D539-4B34-AA14-0E95CA92E191
page(s)	1775-1783
instance of	wds:Q74453611-B4097155-85A3-4C32-8E3E-906324A5A626
instance of	scholarly article
main subject	wds:Q74453611-8F116B9C-935C-43FD-A9B3-CEF5D18F170E
main subject	periventricular nodular heterotopia
PubMed ID	wds:Q74453611-A63DE3DD-4635-49E0-83CB-EEC3582EC671
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11532987
PubMed ID	11532987
published in	wds:Q74453611-D7BBDC40-F0BA-452D-8D8B-6DB5A470F751
published in	Human Molecular Genetics
issue	wds:Q74453611-E5B70642-84B9-48CA-B294-8AFEDFFC6F99
volume	wds:Q74453611-EC487817-F59E-4CB9-918A-F9C5C5E786A5
issue	17
volume	10
DOI	wds:Q74453611-9713DB0E-459B-4056-A2FA-4C9E0DFC6D29
DOI	http://dx.doi.org/10.1093/HMG/10.17.1775
DOI	10.1093/HMG/10.17.1775
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q74453611
is cites work of	Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Genetic malformations of cortical development Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

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