Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.
about
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cystsMLC1: a novel protein in distal astroglial processesMolecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsSequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?Megalencephalic leukoencephalopathy with subcortical cysts.Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review.The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesisKnockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.Leukodystrophies: Indian scenario.Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorderMLC1 protein: a likely link between leukodystrophies and brain channelopathies.Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases.Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients.ABC of multifaceted dystrophin glycoprotein complex (DGC).Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder.Vacuoliting megalencephalic leukoencephalopathy.A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI.
P2860
Q24290928-21B8FC85-6640-45CE-94D2-FB7DEF95ADCCQ24302026-C3C55C53-723B-4AF5-90EC-4FD0F3C1E77DQ24642920-632B76CE-AFB7-4232-9791-230B7E9328A6Q28218867-B9C205A1-880E-4587-A36E-329B45AAF963Q30882681-CD8E35D1-D791-4316-A5C9-C26F4681EFE1Q33372428-0E8A461D-E7C7-4695-AF92-453505C2BBA6Q33711719-B37A61C3-7382-49D9-A787-1DCFC0BE9004Q33856730-DFE9907E-036D-4FDF-B97A-82DF65B322DCQ36099205-37D783BC-875C-4853-B3C6-84C00CE76D49Q36117782-3A63D776-563D-4625-83AE-F9D0889B62F6Q36955603-A77A9455-7742-4851-B40D-1504184F3DBBQ38425447-6FA38362-CA6F-4ABE-BD19-E26DA9E88046Q38446136-C686399C-964A-4303-BEF9-47ABDFB5E317Q38902953-80333E2A-3858-4F4C-86FB-3707737C8014Q39278570-A387619D-0F66-41C7-A275-1F21863B4ED7Q39525661-AC947548-9B6B-4078-95B0-30D462732E72Q42152606-0FDE2A1F-5359-47A1-9DBA-B1590CCB689BQ42539156-3DD09146-F087-4329-BED6-5E2C33D92A42Q42757394-EA62239E-94DC-4FDB-A8CC-E64A5AAE7059Q44396457-B99D707C-68D1-4BB8-8EA1-CFEF12FA5E48
P2860
Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.
description
2000 nî lūn-bûn
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2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2000 թվականի փետրվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@ast
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@en
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@nl
type
label
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@ast
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@en
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@nl
prefLabel
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@ast
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@en
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@nl
P2093
P2860
P356
P1476
Vacuoliting megalencephalic le ...... , mapped to chromosome 22qtel.
@en
P2093
Beckmann JS
Gartioux C
Ribierre F
Yalçinkaya C
P2860
P304
P356
10.1086/302758
P407
P577
2000-02-01T00:00:00Z