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Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMDA single molecular beacon probe is sufficient for the analysis of multiple nucleic acid sequences.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 dystrophyEctopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.A novel splice site mutation in a Becker muscular dystrophy patient.The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.
P2860
Q33678004-9EFBE99F-013C-4893-A682-7C1F9160FDACQ34192840-6061575B-0F7F-447E-87EE-9E6C7B2D2245Q35888853-6E9905DD-0FA1-45C5-9824-0E9FCFE70C52Q40744835-6032DEA6-5BBF-42A2-B33F-8A1E743DDFD1Q42662258-DBA03948-4FC1-4B79-BE79-04EA5305A4AFQ42679947-1824BC45-BF7F-41CF-913C-B55A99B6B608Q45885634-C792FF2A-33F4-4FFE-A6E5-D7779CE6D463
P2860
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
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1993年學術文章
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name
Point mutation in a Becker muscular dystrophy patient.
@en
Point mutation in a Becker muscular dystrophy patient.
@nl
type
label
Point mutation in a Becker muscular dystrophy patient.
@en
Point mutation in a Becker muscular dystrophy patient.
@nl
prefLabel
Point mutation in a Becker muscular dystrophy patient.
@en
Point mutation in a Becker muscular dystrophy patient.
@nl
P2093
P356
P1476
Point mutation in a Becker muscular dystrophy patient.
@en
P2093
Passos-Bueno MR
P356
10.1093/HMG/2.1.75
P577
1993-01-01T00:00:00Z