(Q41660609)

6 October 2017

Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene (English)

1 reference

6 October 2017

Lenk U

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6 October 2017

Hanke R

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6 October 2017

Kräft U

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6 October 2017

Grade K

1 reference

6 October 2017

Grunewald I

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6 October 2017

Speer A

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6 October 2017

language of work or name

English

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publication date

1 November 1993

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Journal of Medical Genetics

6 October 2017

1 reference

6 October 2017

1 reference

6 October 2017

1 reference

6 October 2017

951-954

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Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Human X chromosome markers and Duchenne muscular dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Non-radioactive single strand conformation polymorphism (SSCP) using the Pharmacia 'PhastSystem'.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Genetic analysis of the Duchenne muscular dystrophy gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Point mutations in the dystrophin gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Mutations in the candidate gene for Norrie disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016606

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

2 December 2018

1 reference

12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

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

1 reference

12 December 2020

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients

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

Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency

1 reference

12 December 2020

Detection of DNA aberrations in human cancers by single-strand conformation polymorphism analysis of polymerase chain reaction products

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.11.951

1 reference

6 October 2017

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6 October 2017

PubMed publication ID

8301652

1 reference