(Q33511051)

27 July 2017

title

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes (English)

1 reference

27 July 2017

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1 reference

Basil T Darras

11

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Alan H. Beggs

object named as

Alan H Beggs

12

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author name string

Richard R Bennett

1

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27 July 2017

Hal E Schneider

2

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27 July 2017

Elicia Estrella

3

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27 July 2017

Stephanie Burgess

4

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27 July 2017

Andrew S Cheng

5

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27 July 2017

Caitlin Barrett

6

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27 July 2017

Va Lip

7

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27 July 2017

Poh San Lai

8

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27 July 2017

Yiping Shen

9

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27 July 2017

Bai-Lin Wu

10

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27 July 2017

Louis M Kunkel

13

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27 July 2017

publication date

18 October 2009

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27 July 2017

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27 July 2017

volume

10

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27 July 2017

page(s)

66

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Creative Commons Attribution 2.0 Generic

27 July 2017

copyright license

start time

18 October 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2156-10-66

0 references

cites work

PolyPhred analysis software for mutation detection from fluorescence-based sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Rapid direct sequence analysis of the dystrophin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Base-calling of automated sequencer traces using phred. II. Error probabilities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

No sex difference in mutations rates of Duchenne muscular dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Population frequencies of inherited neuromuscular diseases—A world survey

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781300

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

31 October 2018

1 reference

12 December 2020

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

1 reference

12 December 2020

Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy

1 reference

12 December 2020

Mutation detection using automated fluorescence-based sequencing

1 reference

12 December 2020

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

12 December 2020

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-10-66

1 reference

Dimensions Publication ID

27 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2156-10-66

9 September 2019

1 reference

27 July 2017

1 reference