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A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis
Human Genetics
◽
10.1007/bf00210420
◽
1995
◽
Vol 96
(3)
◽
Cited By ~ 1
Author(s):
AnnaMaria Barbieri
◽
Nadia Soriani
◽
GraziaM. Tubiello
◽
Maurizio Ferrari
◽
Paola Carrera
Keyword(s):
Nonsense Mutation
◽
Dystrophin Gene
◽
Heteroduplex Analysis
◽
Human Dystrophin
Download Full-text
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Cited By
References
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
European Journal of Human Genetics
◽
10.1159/000472193
◽
1996
◽
Vol 4
(3)
◽
pp. 183-187
◽
Cited By ~ 16
Author(s):
Anna Maria Barbieri
◽
Nadia Soriani
◽
Alessandra Ferlini
◽
Anna Michelato
◽
Maurizio Ferrari
◽
...
Keyword(s):
Alternative Splicing
◽
Dystrophin Gene
◽
Heteroduplex Analysis
◽
Rt Pcr
◽
Human Dystrophin
Download Full-text
A novel nonsense mutation in the human dystrophin gene
Human Mutation
◽
10.1002/humu.1380020413
◽
1993
◽
Vol 2
(4)
◽
pp. 314-316
◽
Cited By ~ 7
Author(s):
F. A. Saad
◽
G. Vita
◽
M. Mora
◽
L. Morandi
◽
L. Vitiello
◽
...
Keyword(s):
Nonsense Mutation
◽
Dystrophin Gene
◽
Human Dystrophin
Download Full-text
Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.
Journal of Medical Genetics
◽
10.1136/jmg.30.11.951
◽
1993
◽
Vol 30
(11)
◽
pp. 951-954
◽
Cited By ~ 11
Author(s):
U Lenk
◽
R Hanke
◽
U Kraft
◽
K Grade
◽
I Grunewald
◽
...
Keyword(s):
Dystrophin Gene
◽
Isotopic Analysis
◽
Single Strand Conformation Polymorphism
◽
Single Strand
◽
Human Dystrophin
◽
Conformation Polymorphism
Download Full-text
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)
Nucleic Acids Research
◽
10.1093/nar/19.11.3159
◽
1991
◽
Vol 19
(11)
◽
pp. 3159-3159
◽
Cited By ~ 14
Author(s):
J.P. Hugnot
◽
D. Récan
◽
M. Jeanpierre
◽
J.C. Kaplan
◽
A. Tolun
Keyword(s):
Dystrophin Gene
◽
Repeat Polymorphism
◽
Human Dystrophin
Download Full-text
A refined restriction map of YAC clones spanning the entire human dystrophin gene
Mammalian Genome
◽
10.1007/bf00354931
◽
1994
◽
Vol 5
(9)
◽
pp. 566-571
◽
Cited By ~ 12
Author(s):
C. Nobile
◽
J. Marchi
Keyword(s):
Dystrophin Gene
◽
Restriction Map
◽
Human Dystrophin
Download Full-text
European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene
Neuromuscular Disorders
◽
10.1016/j.nmd.2014.11.011
◽
2015
◽
Vol 25
(1)
◽
pp. 5-13
◽
Cited By ~ 95
Author(s):
Manuel Haas
◽
Viktor Vlcek
◽
Pavel Balabanov
◽
Tomas Salmonson
◽
Serge Bakchine
◽
...
Keyword(s):
Duchenne Muscular Dystrophy
◽
Muscular Dystrophy
◽
Nonsense Mutation
◽
Dystrophin Gene
◽
European Medicines Agency
Download Full-text
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother
Journal of Human Genetics
◽
10.1038/jhg.2015.157
◽
2016
◽
Vol 61
(4)
◽
pp. 351-355
◽
Cited By ~ 6
Author(s):
Mariko Taniguchi-Ikeda
◽
Yasuhiro Takeshima
◽
Tomoko Lee
◽
Masahiro Nishiyama
◽
Hiroyuki Awano
◽
...
Keyword(s):
Next Generation Sequencing
◽
Umbilical Cord
◽
Nonsense Mutation
◽
Somatic Mosaicism
◽
Dystrophin Gene
◽
Next Generation
◽
Low Level
◽
Generation Sequencing
Download Full-text
The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced
Nature Genetics
◽
10.1038/ng0295-184
◽
1995
◽
Vol 9
(2)
◽
pp. 184-190
◽
Cited By ~ 207
Author(s):
Christine N. Tennyson
◽
Henry J. Klamut
◽
Ronald G. Worton
Keyword(s):
Dystrophin Gene
◽
Human Dystrophin
Download Full-text
An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements
Human Molecular Genetics
◽
10.1093/hmg/ddl015
◽
2006
◽
Vol 15
(6)
◽
pp. 999-1013
◽
Cited By ~ 59
Author(s):
A. Disset
◽
C.F. Bourgeois
◽
N. Benmalek
◽
M. Claustres
◽
J. Stevenin
◽
...
Keyword(s):
Nonsense Mutation
◽
Exon Skipping
◽
Dystrophin Gene
◽
Complex Interplay
Download Full-text
Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene
Human Genetics
◽
10.1007/bf00204929
◽
1991
◽
Vol 88
(1)
◽
pp. 53-58
◽
Cited By ~ 30
Author(s):
George Dickson
◽
DonaldR. Love
◽
KayE. Davies
◽
KirmE. Wells
◽
TonyA. Piper
◽
...
Keyword(s):
Gene Transfer
◽
Recombinant Dna
◽
Dystrophin Gene
◽
Human Dystrophin
Download Full-text
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