About: Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

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About: Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 1999

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 1999 (uk) im März 1999 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 1999 (ast) scientific article published on 01 March 1999 (en)
publication date	wds:Q77738177-CC9537CC-95F3-4B45-B66A-371E271F5409
publication date	1999-03-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q77738177-B827596B-896F-42BA-A91C-174CF8AA27C4
exact match	https://scigraph.springernature.com/pub.10.1007/s004390050943
author name string	wds:Q77738177-23BCC44A-9E97-440B-A8BD-5A5935565BF1 wds:Q77738177-2CC8102F-D767-4F1E-B3A4-68E20D2FA00B wds:Q77738177-7D0304FC-4371-46D2-9BB7-A62408C2AF94 wds:Q77738177-8CA1FC01-14CB-4B70-A086-7A0323CD8718 wds:Q77738177-9F13EFA8-CBB2-4B25-9760-9C8D070BD4AE wds:Q77738177-E213713D-4D13-4FAB-B697-9DE5C49C8C9E
author name string	T Lerman-Sagie K H Orstavik M Kristiansen M Sadeh S Liechti-Gallati S M Tanner
rdfs:label	Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (en) Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (nl)
skos:prefLabel	Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (en) Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (nl)
name	Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (en) Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (nl)
author	wds:Q77738177-563545EC-272C-4542-A636-C1F85598A716
author	Dorit Lev
title	wds:Q77738177-0D47C4D4-5DCF-4A41-AF82-D3CBEDCA18FD
title	Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother (en)
page(s)	wds:Q77738177-80374C6B-F08E-4E40-B86A-2EA8C13404DE
page(s)	249-253
instance of	wds:Q77738177-2F3A4CD6-4DA0-4D1B-BA4B-8387549416B4
instance of	scholarly article
main subject	wds:Q77738177-4E445E59-9160-4DE3-BA30-877C5C44CABA
main subject	X-linked myotubular myopathy
PubMed ID	wds:Q77738177-47D26C43-2D4D-4897-B04A-C3C2893EE215
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10323249
PubMed ID	10323249
published in	wds:Q77738177-8E5C3A49-84DA-448A-AE80-C61F392723B0
published in	Human Genetics
issue	wds:Q77738177-1D53AFDF-5291-41F0-8729-7DAB723AC998
volume	wds:Q77738177-215BB22B-4AD8-4E9C-BF8C-43BFE9F4A6A7
issue	3
volume	104
DOI	wds:Q77738177-85E132AE-14DC-4A6F-9B77-434D46D83C08
DOI	http://dx.doi.org/10.1007/S004390050943
DOI	10.1007/S004390050943
Dimensions Publication ID	wds:Q77738177-AFD43BB3-EBFF-42DF-BDF9-138EB5BDEECF
Dimensions Publication ID	1042522123
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q77738177
is cites work of	X chromosome inactivation in clinical practice Centronuclear (myotubular) myopathy Pathological defects in congenital myopathies Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy What's new in neuromuscular disorders? The congenital myopathies Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation Characterization of mutations in fifty North American patients with X-linked myotubular myopathy Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons Congenital myopathies: clinical phenotypes and new diagnostic tools. X-inactivation patterns in carriers of X-linked myotubular myopathy. Adult MTM1-related myopathy carriers: Classification based on deep phenotyping Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature. Congenital myopathies X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
is cites work of	wds:Q36889420-14EFE10F-D702-4ED3-9E59-47F4AAB3931E wds:Q44411556-0900AFE5-232F-4F65-9B76-10863C289E89 wds:Q90196738-B39E3751-23D4-4C49-B5AA-B7769FDFF9DE wds:Q35077032-873B281F-DC36-447F-BAFE-336A0820E951 wds:Q37460958-FE99F1DD-40F4-4CD9-83EB-FBF8541069D6 wds:Q26773024-D98DF5F3-8449-4ACE-903C-D39082105805 wds:Q47134873-892A638C-06CF-485A-9D0D-28B355D71504 wds:Q82029849-9BDB87BF-63B4-492E-B4C1-E121786C5FD4 wds:Q37359970-3BE2A98F-253D-4088-9B8D-409DCF2B6C71 wds:Q36948074-D3F7AB4B-99E4-4BD2-92FC-DEF3FBC8EC16 wds:Q38824558-521C29D3-4E39-4360-B87E-59EEBAB3C3A2 wds:Q43856210-84BEFF84-BE2C-4881-97D5-277403A6BB02 wds:Q54762201-ABCDE5D9-AA61-43ED-BCFC-B038D7C5AFE0 wds:Q73046585-82D0FF64-B29B-4A68-B2C1-2B5E630A758B wds:Q33357787-3AE2D632-125C-43F7-99C6-97E81D1DAA98 wds:Q34162868-A3C4E16F-0BE3-4FC3-B274-AC8BFC3B768A wds:Q38813192-939B141A-FD64-478E-8CB0-EA14BCE0C0D2 wds:Q36809651-6C7677C2-3AD8-4A52-A156-9994D2BFACDE wds:Q77667545-70A6AD42-C319-4C19-B21A-0ADD6AAE251D

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