A new approach for the identification of common point mutations within the dystrophin gene using MLPA

A new approach for the identification of common point mutations within the dystrophin gene using MLPA

Manylion Llyfryddiaeth
Prif Awduron:	Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Bunyan, D
Fformat:	Conference item
Cyhoeddwyd:	2005

Eitemau Tebyg

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
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MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
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Identification of gross deletions in FBN1 gene by MLPA
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Identification and characterization of dystrophin-locus-derived testis-specific protein: A testis-specific gene within the intronic region of the rat dystrophin gene
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MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
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“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
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Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
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Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example
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Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
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Application of MLPA and gap-PCR mapping to characterise a novel beta globin gene cluster deletion mutation in a family of Afghan ancestry
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Rapid screening for chromosomal aneuploidies using array-MLPA
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
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Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
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MLPA in the initial genetic screening of patients with acute myeloid leukemia
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Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
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OPTIMIZATION OF PLASMA CELL ENRICHMENT FOR CNV DETECTION BY SNP ARRAY AND MLPA
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Quantitative analysis of the dystrophin gene by real-time PCR
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Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
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Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse.
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Multi-Linear Population Analysis (MLPA) of LFP Data Using Tensor Decompositions
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Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD
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Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
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A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy
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