Molecular diagnosis of Duchenne muscular dystrophy. (Q51030653)

27 March 2018

title

Molecular diagnosis of Duchenne muscular dystrophy. (English)

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27 March 2018

author name string

Babi Ramesh Reddy Nallamilli

series ordinal

1

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27 March 2018

Arunkanth Ankala

series ordinal

2

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27 March 2018

Madhuri Hegde

series ordinal

3

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27 March 2018

publication date

1 October 2014

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27 March 2018

Current protocols in human genetics / editorial board, Nicholas C, Dracapoli ... [et al.]

published in

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27 March 2018

volume

83

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27 March 2018

page(s)

9.25.1-29

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27 March 2018

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

cites work

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Measurement of locus copy number by hybridisation with amplifiable probes

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Detection limit of intragenic deletions with targeted array comparative genomic hybridization

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

21 January 2018

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Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

21 January 2018

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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

21 January 2018

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

21 January 2018

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Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

21 January 2018

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Microarray-based mutation detection in the dystrophin gene

21 January 2018

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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

21 January 2018

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Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

21 January 2018

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Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel

21 January 2018

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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

21 January 2018

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Genetics of Duchenne muscular dystrophy

21 January 2018

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10.1002/0471142905.HG0925S83

21 January 2018

Identifiers

DOI

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27 March 2018

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27 March 2018