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

Détails bibliographiques
Auteurs principaux:	Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Bunyan, D
Format:	Conference item
Publié:	2005

Documents similaires

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
par: Bunyan, D, et autres
Publié: (2007)

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
par: Bunyan, D, et autres
Publié: (2004)

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
par: Sekar Deepha, et autres
Publié: (2017-06-01)

Identification of gross deletions in FBN1 gene by MLPA
par: Hang Yang, et autres
Publié: (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
par: Keitaro YAMANOUCHI, et autres
Publié: (2024-01-01)

DELETIONS WITHIN THE DYSTROPHIN GENE RESULTING FROM REPLICATION ERRORS
par: Baldrich, K, et autres
Publié: (1991)

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

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

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

DIVERSITY OF THE DYSTROPHIN GENE-PRODUCTS
par: Chelly, J, et autres
Publié: (1993)

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

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
par: Amel Saoudi, et autres
Publié: (2024-12-01)

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
par: Darras Basil T, et autres
Publié: (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
par: Gallienne, A, et autres
Publié: (2009)

Function and genetics of dystrophin and dystrophin-related proteins in muscle.
par: Blake, D, et autres
Publié: (2002)

Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene
par: Masahito Watanabe, et autres
Publié: (2023-09-01)

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

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
par: Marcella Neri, et autres
Publié: (2020-03-01)

MLPA in the initial genetic screening of patients with acute myeloid leukemia
par: Yahya Dinnar, et autres
Publié: (2024-03-01)

The utrophin and dystrophin genes share similarities in genomic structure.
par: Pearce, M, et autres
Publié: (1993)

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

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey
par: M Royuela, et autres
Publié: (2009-06-01)

MLPAnalyzer: Data Analysis Tool for Reliable Automated Normalization of MLPA Fragment Data
par: Jordy Coffa, et autres
Publié: (2008-01-01)

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

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

OPTIMIZATION OF PLASMA CELL ENRICHMENT FOR CNV DETECTION BY SNP ARRAY AND MLPA
par: MIHAIELA LOREDANA DRAGOS, et autres
Publié: (2022-06-01)

Quantitative analysis of the dystrophin gene by real-time PCR
par: Maksimovic Nela, et autres
Publié: (2012-01-01)

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

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
par: Priyanshu Mathur, et autres
Publié: (2025-06-01)

Dystrophin in Fetal Muscle
par: J Gordon Millichap
Publié: (1992-05-01)

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse.
par: Lu, Q, et autres
Publié: (2003)

Multi-Linear Population Analysis (MLPA) of LFP Data Using Tensor Decompositions
par: Justen Geddes, et autres
Publié: (2020-09-01)

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD
par: Tian Lan, et autres
Publié: (2024-11-01)

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

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

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report
par: Yan Wang, et autres
Publié: (2020-11-01)

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

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient
par: Hao Yu, et autres
Publié: (2017-01-01)

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication
par: Angelika J. Dawson, et autres
Publié: (2015-01-01)

Dystrophin in Limb-Girdle Dystrophy
par: J Gordon Millichap
Publié: (1991-11-01)