Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
about
Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMDGermline and somatic mosaicism in a female carrier of Hunter diseaseThe clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Investigation of muscle disease.Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy familyIntrinsic differences between authentic and cryptic 5' splice sites.Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype.
P2860
Q33678004-F345B79C-0A96-417F-BEB4-C11DA23EA7F9Q33678433-FF0D3D6D-A6E3-49B1-8098-CDFA5EAAB606Q33679539-E24828E7-411C-4CCE-9294-388F7FF24A9EQ33735060-759A4515-F733-4B6A-B419-1F1374CA31C2Q35432280-E4CA8451-F55B-421B-989C-8174237C7EFFQ40240461-DA5670FE-95D5-4B9E-8BEA-2EF41057C86DQ41855877-10F0AC3B-D6DB-4C6C-8532-2F94C80271B6
P2860
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
description
1994 nî lūn-bûn
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1994年の論文
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1994年学术文章
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1994年学术文章
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1994年学术文章
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1994年学术文章
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1994年学术文章
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1994年学术文章
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1994年學術文章
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1994年學術文章
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name
Identification of a point muta ...... nne muscular dystrophy family.
@en
Identification of a point muta ...... nne muscular dystrophy family.
@nl
type
label
Identification of a point muta ...... nne muscular dystrophy family.
@en
Identification of a point muta ...... nne muscular dystrophy family.
@nl
prefLabel
Identification of a point muta ...... nne muscular dystrophy family.
@en
Identification of a point muta ...... nne muscular dystrophy family.
@nl
P2093
P356
P1433
P1476
Identification of a point muta ...... nne muscular dystrophy family.
@en
P2093
P304
P356
10.1002/HUMU.1380030208
P577
1994-01-01T00:00:00Z