(Q54577785)

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A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

1 reference

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author name string

Van Khanh Tran

1

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Yasuhiro Takeshima

2

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Zhujun Zhang

3

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Yasuaki Habara

4

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Kazuhiro Haginoya

5

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Atsushi Nishiyama

6

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Mariko Yagi

7

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

Masafumi Matsuo

8

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

publication date

26 September 2006

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

120

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

5

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

737-742

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024373

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0241-Y

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/17024373

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