POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

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http://www.wikidata.org/entity/Q24676293
O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor functionMutations in POMGNT1 cause non-syndromic retinitis pigmentosaBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.What disorders of cortical development tell us about the cortex: one plus one does not always make twoA glycogene mutation map for discovery of diseases of glycosylation.Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American AssoNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseCongenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.A newly recognized autosomal recessive syndrome affecting neurologic function and vision
P2860

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

Item
http://www.wikidata.org/entity/Q24676293
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@ast
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@en
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@nl
type
label
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@ast
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@en
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@nl
prefLabel
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@ast
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@en
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932