A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
about
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.The expanded collagen VI family: new chains and new questionsColVI myopathies: where do we stand, where do we go?Discovery, Synthesis, and Optimization of Diarylisoxazole-3-carboxamides as Potent Inhibitors of the Mitochondrial Permeability Transition Pore.The congenital muscular dystrophies: recent advances and molecular insights.The collagen VI-related myopathies: muscle meets its matrix.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Early onset collagen VI myopathies: Genetic and clinical correlations.
P2860
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P2860
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
description
2005 nî lūn-bûn
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2005年の論文
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name
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@en
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@nl
type
label
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@en
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@nl
prefLabel
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@en
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@nl
P2093
P50
P1433
P1476
A homozygous COL6A2 intron mut ...... congenital muscular dystrophy.
@en
P2093
Eugenio Mercuri
Francesco Muntoni
Laura Lucarini
Mon-Li Chu
Rui-Zhu Zhang
Te-Cheng Pan
P2888
P304
P356
10.1007/S00439-005-1318-8
P577
2005-06-17T00:00:00Z