(Q35198016)

7 August 2017

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

1 reference

Duchenne muscular dystrophy

7 August 2017

1 reference

Hu XY

1

1 reference

7 August 2017

Ray PN

2

1 reference

7 August 2017

Murphy EG

3

1 reference

7 August 2017

Thompson MW

4

1 reference

7 August 2017

Worton RG

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 April 1990

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

46

1 reference

7 August 2017

682-695

1 reference

7 August 2017

4

1 reference

A strategy to reveal high-frequency RFLPs along the human X chromosome

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Meiotic exchange within and between chromosomes requires a common Rec function in Saccharomyces cerevisiae

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Partial gene duplication in Duchenne and Becker muscular dystrophies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Genetics of Duchenne muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Maternal duplication associated with gene deletion in sporadic hemophilia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Slips, strings and species

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Recent developments in the molecular genetics of human hemoglobin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683676

Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin

26 September 2018

1 reference

12 December 2020

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

12 December 2020

Familial deletion in Becker type muscular dystrophy within the pXJ region

1 reference

12 December 2020

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Mutants in Duchenne muscular dystrophy. Implications for prevention

1 reference

12 December 2020

The parental origin of mutations causing Duchenne muscular dystrophy

1 reference

12 December 2020

A deletion hot spot in the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020

Spontaneous mutation in man

1 reference

12 December 2020

DNA deletions in mild and severe Becker muscular dystrophy

1 reference

12 December 2020

Identifiers

PMCID

1683676

1 reference

7 August 2017

1 reference