(Q72094333)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

F Rininsland

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

J Reiss

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 August 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

111-116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy

23 October 2019

cites work

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

12 December 2020

Identification of a new DMD gene deletion by ectopic transcript analysis

1 reference

12 December 2020

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

1 reference

12 December 2020

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations

1 reference

12 December 2020

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

12 December 2020

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

12 December 2020

A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis

1 reference

12 December 2020

The rapid detection of unknown mutations in nucleic acids.

1 reference

12 December 2020

Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.

1 reference

12 December 2020

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1 reference

12 December 2020

A novel nonsense mutation in the human dystrophin gene

1 reference

12 December 2020

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

12 December 2020

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

1 reference

12 December 2020

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis

1 reference

12 December 2020

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

1 reference

12 December 2020

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

12 December 2020

The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken

1 reference

12 December 2020

A Msel polymorphism in exon 48 of the dystrophin gene

1 reference

12 December 2020

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

12 December 2020

Point mutations in the dystrophin gene

1 reference

12 December 2020

Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor

1 reference

12 December 2020

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

12 December 2020

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X

1 reference

12 December 2020

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

1 reference

12 December 2020

Identification of a novel T-insertion polymorphism at the DMD locus

1 reference

12 December 2020

Exon structure of the human dystrophin gene

1 reference

12 December 2020

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

1 reference

12 December 2020

Detection of an exon 53 polymorphism in the dystrophin gene

1 reference

12 December 2020

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

1 reference

12 December 2020

Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

1 reference

12 December 2020

Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique

1 reference

12 December 2020

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202854

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045556%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference