Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

The Multiplex Ligation-dependent Probe Amplification assay (MLPA) is the method of choice for the initial mutation screen in the analysis of a large number of genes where partial or total gene deletion is part of the mutation spectrum. Although MLPA dosage probes are usually designed to bind to norm...

書目詳細資料
Main Authors:	Bunyan, D, Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Cross, N, Harvey, J, Robinson, DO
格式:	Journal article
語言:	English
出版:	2007

相似書籍

A new approach for the identification of common point mutations within the dystrophin gene using MLPA
由: Skinner, A, et al.
出版: (2005)

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
由: Bunyan, D, et al.
出版: (2004)

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
由: Sekar Deepha, et al.
出版: (2017-06-01)

Characterisation of beta globin gene cluster deletions using multiplex-Gap-PCR and Multiplex Ligation-dependent Probe Amplification (MLPA)
由: Redzuwan, Yasmin Mohamad
出版: (2018)

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
由: Wittaya Jomoui, et al.
出版: (2023-06-01)

Identification of gross deletions in FBN1 gene by MLPA
由: Hang Yang, et al.
出版: (2018-10-01)

Application of MLPA and gap-PCR mapping to characterise a novel beta globin gene cluster deletion mutation in a family of Afghan ancestry
由: Gallienne, A, et al.
出版: (2009)

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
由: Natália O. Mota, et al.
出版: (2017-10-01)

DELETIONS WITHIN THE DYSTROPHIN GENE RESULTING FROM REPLICATION ERRORS
由: Baldrich, K, et al.
出版: (1991)

Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma
由: Gary L. Gallia, et al.
出版: (2018-12-01)

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
由: Africa Manero-Azua, et al.
出版: (2023-10-01)

PRADER-WILLI SYNDROME IDENTIFIED BY METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION (MS-MLPA)
由: Simona Loredana Vasilache, et al.
出版: (2017-12-01)

<it>MLPAinter for MLPA interpretation: </it>an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification
由: Morreau Hans, et al.
出版: (2010-01-01)

Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies
由: Maksić Jasmina, et al.
出版: (2020-01-01)

Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
由: Malhotra Hardeep, et al.
出版: (2011-01-01)

Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy
由: Kushal Shrestha, et al.
出版: (2016-12-01)

A simple way to evaluate self-designed probes for tumor specific Multiplex Ligation-dependent Probe Amplification (MLPA)
由: Wiechec Emilia, et al.
出版: (2010-06-01)

COMPARISON BETWEEN MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA) AND CYTOGENETICS FOR VALIDATION OF CHROMOSOMAL ABERRATIONS IN CHRONIC LYMPHOCYTIC LEUKEMIA
由: L Nardinelli, et al.
出版: (2021-10-01)

SINDROMUL PRADER WILLI IDENTIFICAT PRIN TEHNICA MS-MLPA (METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION)
由: Simona Loredana Vasilache, et al.
出版: (2017-12-01)

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
由: Villatoro Sergi, et al.
出版: (2008-06-01)

Function and genetics of dystrophin and dystrophin-related proteins in muscle.
由: Blake, D, et al.
出版: (2002)

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
由: Rasic Milic V., et al.
出版: (2014-12-01)

Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction
由: Tan, J., et al.
出版: (2010)

{'en_US': 'Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy'}
由: Kushal Shrestha, et al.
出版: (2016-12-01)

{'en_US': 'Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy'}
由: Kushal Shrestha, et al.
出版: (2016-12-01)

Rapid screening for chromosomal aneuploidies using array-MLPA
由: van Beuningen Rinie, et al.
出版: (2011-05-01)

MLPA for confirmation of array CGH results and determination of inheritance
由: Thomas Helen, et al.
出版: (2010-10-01)

Partial protoporphyrinogen oxidase (<it>PPOX</it>) gene deletions, due to different <it>Alu</it>-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
由: Barbaro Michela, et al.
出版: (2013-01-01)

Comparison of MLPA Method for Detection of Known and Unknown Deletions in Beta Globin Gene Cluster with Old Methods (REAL-TIME, RFLP, Gap-PCR)
由: R R Alimohammadi, et al.
出版: (2008-12-01)

Multiplex in situ hybridization within a single transcript: RNAscope reveals dystrophin mRNA dynamics.
由: John C W Hildyard, et al.
出版: (2020-01-01)

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
由: Hamers Guus, et al.
出版: (2011-01-01)

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example
由: Malgorzata Marcinkowska, et al.
出版: (2010-01-01)

DIVERSITY OF THE DYSTROPHIN GENE-PRODUCTS
由: Chelly, J, et al.
出版: (1993)

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey
由: M Royuela, et al.
出版: (2009-06-01)

Dystrophin in Fetal Muscle
由: J Gordon Millichap
出版: (1992-05-01)

Comparison of MLPA Method for Detection of Known and Unknown Deletions in Beta Globin Gene Cluster with Old Methods (REAL-TIME, RFLP, Gap-PCR)
由: R Alimohammadi
出版: (2012-05-01)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
由: Marcella Neri, et al.
出版: (2020-03-01)

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
由: Sue Fletcher, et al.
出版: (2012-01-01)

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
由: Amir Jahic, et al.
出版: (2019-09-01)

MLPA in the initial genetic screening of patients with acute myeloid leukemia
由: Yahya Dinnar, et al.
出版: (2024-03-01)