(Q35644562)

English

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

scientific article published on August 1995

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Gardner RJ

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Bobrow M

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Roberts RG

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

1 August 1995

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

57

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

311-320

1 reference

Europe PubMed Central

PubMed publication ID

9 August 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=1801547

27 July 2018

Exon structure of the human dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 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=1801547

27 July 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=1801547

27 July 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=1801547

27 July 2018

Transcription of the dystrophin gene in human muscle and non-muscle tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 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=1801547

27 July 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=1801547

27 July 2018

Molecular pathology of haemophilia B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 2018

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 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=1801547

27 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 2018

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 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=1801547

27 July 2018

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 2018

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 2018

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

27 July 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=1801547

27 July 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=1801547

27 July 2018

Molecular diagnosis of familial adenomatous polyposis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801547

25 September 2018

Nonsense mutations and diminished mRNA levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668256

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/7668256

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/7668256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/7668256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35644562&oldid=1524544216"