Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

Item
http://www.wikidata.org/entity/Q34198632
Walker-Warburg syndromeTwo new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndromeTargeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethalityIdentification of new dystroglycan complexes in skeletal muscleBasal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycanGlyc-O-genetics of Walker-Warburg syndrome.Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.Muscular dystrophies due to defective glycosylation of dystroglycan.Muscular dystrophies due to glycosylation defects.Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
P2860

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

Item
http://www.wikidata.org/entity/Q34198632
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年学术文章
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2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
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2003年学术文章
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2003年學術文章
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name
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@ast
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@en
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
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type
label
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@ast
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@en
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@nl
prefLabel
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@ast
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@en
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
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P1433
P1476
Extracellular matrix and nucle ...... rome caused by POMT1 mutation.
@en
P2093
P304
P31
P356
10.1016/S0925-4439(03)00040-1
P407
P433
P478
P50
P577
P698
P921