Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

Item
http://www.wikidata.org/entity/Q28212538
Q28178958
sameAs
Hereditary inclusion body myopathy: a decade of progressIntravenous immune globulin in hereditary inclusion body myopathy: a pilot studyHereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzleMolecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.Mutation update for GNE gene variants associated with GNE myopathy.GNE myopathy: current update and future therapy.Genetics of GNE myopathy in the non-Jewish Persian populationSafety and in vivo expression of a GNE-transgene: a novel treatment approach for hereditary inclusion body myopathy-2.Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.Muscle imaging findings in GNE myopathy.GNE Myopathy (Hereditary Inclusion-Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology
P2860

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

Item
http://www.wikidata.org/entity/Q28212538
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@ast
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@en
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@nl
type
label
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@ast
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@en
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@nl
prefLabel
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@ast
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@en
Four novel mutations associate ...... on body myopathy (MIM: 600737)
@nl
P1433
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P2093
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P698
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Four novel mutations associate ...... on body myopathy (MIM: 600737)
@en
P2093
P304
P31
P356
10.1016/S1096-7192(02)00141-5
P407
P433
P478
P577
P698