(Q24794339)

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K F O'Brien

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B T Darras

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L M Kunkel

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

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language of work or name

English

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publication date

2001

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Glycoprotein complex anchoring dystrophin to sarcolemma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Population frequencies of inherited neuromuscular diseases—A world survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Membrane organization of the dystrophin-glycoprotein complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

How sensitive is PCR-SSCP?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Dystrophinopathy in isolated cases of myopathy in females

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=59832

Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G

28 November 2018

1 reference

12 December 2020

Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

12 December 2020

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

1 reference

12 December 2020

Double-gradient DGGE for optimized detection of DNA point mutations

1 reference

12 December 2020

Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis

1 reference

12 December 2020

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

12 December 2020

Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-2-17

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Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2156-2-17

1 reference

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PubMed publication ID

11710958

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