(Q35125990)

6 August 2017

title

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy (English)

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6 August 2017

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Kevin M Flanigan

1

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6 August 2017

Diane M Dunn

2

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6 August 2017

Andrew von Niederhausern

3

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6 August 2017

Michael T Howard

4

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6 August 2017

Jerry Mendell

5

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6 August 2017

Anne Connolly

6

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6 August 2017

Carol Saunders

7

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6 August 2017

Ann Modrcin

8

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6 August 2017

Majed Dasouki

9

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6 August 2017

Giacomo P Comi

10

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6 August 2017

Roberto Del Bo

11

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6 August 2017

Angela Pickart

12

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6 August 2017

Richard Jacobson

13

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6 August 2017

Richard Finkel

14

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6 August 2017

Livija Medne

15

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6 August 2017

Robert B Weiss

16

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6 August 2017

publication date

29 September 2009

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6 August 2017

published in

Neuromuscular Disorders

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6 August 2017

volume

19

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6 August 2017

issue

11

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6 August 2017

page(s)

743-748

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DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

A Bayesian method for jointly estimating allele age and selection intensity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

American founder mutation for attenuated familial adenomatous polyposis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Genome-wide detection and characterization of positive selection in human populations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

PLINK: a tool set for whole-genome association and population-based linkage analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among 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=3142924

Rapid direct sequence analysis of the dystrophin 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=3142924

A high-resolution recombination map of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

The structure of haplotype blocks in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Contrasting evolutionary histories of two introns of the duchenne muscular dystrophy gene, Dmd, in humans.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Deletions in the 5' region of dystrophin and resulting phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

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=3142924

Dystrophin in frameshift deletion patients with Becker 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=3142924

Effects of reproductive compensation and genetic drift on X-linked lethals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3142924

27 September 2018

The muscular dystrophies

1 reference

12 December 2020

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history

1 reference

12 December 2020

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

1 reference

12 December 2020

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

12 December 2020

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

12 December 2020

10.1016/J.NMD.2009.08.010

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference