A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy
about
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemiaModulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through.Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.A novel splice site mutation in a Becker muscular dystrophy patient.
P2860
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy
description
1994 nî lūn-bûn
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1994年の論文
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name
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@ast
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@en
type
label
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@ast
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@en
prefLabel
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@ast
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@en
P2093
P2860
P1476
A novel point mutation (G-1 to ...... for Becker muscular dystrophy
@en
P2093
Hagiwara Y
Nakamura H
Takeshima Y
Yokoyama M
P2860
P407
P577
1994-01-01T00:00:00Z