Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
about
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related DiseasesThe sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesChimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype.Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient.Chimeric protein identification of dystrophic, Pierson and other laminin polymerization residues.Child Neurology: LAMA2 muscular dystrophy without contractures.
P2860
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P2860
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@en
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@nl
type
label
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@en
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@nl
prefLabel
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@en
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@nl
P2093
P2860
P50
P356
P1433
P1476
Clinical and molecular charact ...... trophy due to LAMA2 mutations.
@en
P2093
Anna Filomena Ticca
Bruno F Gavassini
Carsten Thomsen
Elena Pegoraro
Else R Danielsen
Gianni Soraru
Giovanni Marrosu
John Vissing
Jørgen E Nielsen
Kirsten Svenstrup
P2860
P304
P356
10.1002/MUS.22132
P577
2011-09-26T00:00:00Z