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

Bibliografske podrobnosti
Main Authors:	Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Bunyan, D
Format:	Conference item
Izdano:	2005

Podobne knjige/članki

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
od: Bunyan, D, et al.
Izdano: (2007)

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

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

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

Identification and characterization of dystrophin-locus-derived testis-specific protein: A testis-specific gene within the intronic region of the rat dystrophin gene
od: Keitaro YAMANOUCHI, et al.
Izdano: (2024-01-01)

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

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
od: Ola M. Eid, et al.
Izdano: (2022-07-01)

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

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

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

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

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
od: Amel Saoudi, et al.
Izdano: (2024-12-01)

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
od: Darras Basil T, et al.
Izdano: (2001-10-01)

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

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

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

Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene
od: Masahito Watanabe, et al.
Izdano: (2023-09-01)

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

The Spectrum of Dystrophin Gene Mutations in Duchene Muscular Dystrophy Patients of South-Western Maharashtra in India
od: Kailas D. Datkhile, et al.
Izdano: (2015-04-01)

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
od: Triana-Fonseca P, et al.
Izdano: (2021-10-01)

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

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
od: Tuva Å. Solheim, et al.
Izdano: (2021-07-01)

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle
od: Katherine M. Kaplan, et al.
Izdano: (2022-11-01)

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

The utrophin and dystrophin genes share similarities in genomic structure.
od: Pearce, M, et al.
Izdano: (1993)

MLPAnalyzer: Data Analysis Tool for Reliable Automated Normalization of MLPA Fragment Data
od: Jordy Coffa, et al.
Izdano: (2008-01-01)

The Duchenne and Becker muscular dystrophy gene and protein product dystrophin
od: Monaco, A
Izdano: (1989)

Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene.
od: Monaco, A
Izdano: (1989)

OPTIMIZATION OF PLASMA CELL ENRICHMENT FOR CNV DETECTION BY SNP ARRAY AND MLPA
od: MIHAIELA LOREDANA DRAGOS, et al.
Izdano: (2022-06-01)

Quantitative analysis of the dystrophin gene by real-time PCR
od: Maksimovic Nela, et al.
Izdano: (2012-01-01)

Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy.
od: Areen T. Ramadhan Al-Hadithi, et al.
Izdano: (2014-07-01)

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
od: Priyanshu Mathur, et al.
Izdano: (2025-06-01)

Dystrophin in Fetal Muscle
od: J Gordon Millichap
Izdano: (1992-05-01)

Characterization of brain dystrophins absence and impact in dystrophin-deficient Dmdmdx rat model.
od: Dorian Caudal, et al.
Izdano: (2020-01-01)

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse.
od: Lu, Q, et al.
Izdano: (2003)

Multi-Linear Population Analysis (MLPA) of LFP Data Using Tensor Decompositions
od: Justen Geddes, et al.
Izdano: (2020-09-01)

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD
od: Tian Lan, et al.
Izdano: (2024-11-01)

A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy
od: Abdelbaset Mohamed Elasbali, et al.
Izdano: (2025-02-01)

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

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
od: Kane L Greer, et al.
Izdano: (2014-01-01)