POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
about
Functional and genomic analyses of blocked protein O-mannosylation in baker's yeast.Congenital muscular dystrophies: a brief reviewDiagnostic approach to the congenital muscular dystrophies.Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseThe o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands.A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.
P2860
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P2860
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
@en
type
label
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
@en
prefLabel
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
@en
P2093
P50
P1476
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study
@en
P2093
C P Trevisan
E Pegoraro
F M Santorelli
G Tortorella
P304
P356
10.1016/J.NMD.2008.04.004
P50
P577
2008-06-02T00:00:00Z