(Q33678004)

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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 BMD

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Europe PubMed Central

PubMed publication ID

28 July 2017

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Roest PA

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Bout M

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

van der Tuijn AC

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ginjaar IB

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Bakker E

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Hogervorst FB

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

van Ommen GJ

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

den Dunnen JT

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

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publication date

1 November 1996

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

935-939

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

An alternative dystrophin transcript specific to peripheral nerve

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

Point mutation in a Becker muscular dystrophy patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

Point mutations in the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

21 June 2018

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

30 October 2018

Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050788

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of small mutations in the dystrophin coding region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8950674

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.11.935

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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