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

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Bunyan, D
التنسيق:	Conference item
منشور في:	2005

مواد مشابهة

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
حسب: Bunyan, D, وآخرون
منشور في: (2007)

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
حسب: Bunyan, D, وآخرون
منشور في: (2004)

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
حسب: Sekar Deepha, وآخرون
منشور في: (2017-06-01)

Identification of gross deletions in FBN1 gene by MLPA
حسب: Hang Yang, وآخرون
منشور في: (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
حسب: Keitaro YAMANOUCHI, وآخرون
منشور في: (2024-01-01)

DELETIONS WITHIN THE DYSTROPHIN GENE RESULTING FROM REPLICATION ERRORS
حسب: Baldrich, K, وآخرون
منشور في: (1991)

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
حسب: Ola M. Eid, وآخرون
منشور في: (2022-07-01)

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

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
حسب: Rasic Milic V., وآخرون
منشور في: (2014-12-01)

DIVERSITY OF THE DYSTROPHIN GENE-PRODUCTS
حسب: Chelly, J, وآخرون
منشور في: (1993)

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example
حسب: Malgorzata Marcinkowska, وآخرون
منشور في: (2010-01-01)

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
حسب: Amel Saoudi, وآخرون
منشور في: (2024-12-01)

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
حسب: Darras Basil T, وآخرون
منشور في: (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
حسب: Gallienne, A, وآخرون
منشور في: (2009)

Function and genetics of dystrophin and dystrophin-related proteins in muscle.
حسب: Blake, D, وآخرون
منشور في: (2002)

Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene
حسب: Masahito Watanabe, وآخرون
منشور في: (2023-09-01)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
حسب: Marcella Neri, وآخرون
منشور في: (2020-03-01)

The Spectrum of Dystrophin Gene Mutations in Duchene Muscular Dystrophy Patients of South-Western Maharashtra in India
حسب: Kailas D. Datkhile, وآخرون
منشور في: (2015-04-01)

MLPA in the initial genetic screening of patients with acute myeloid leukemia
حسب: Yahya Dinnar, وآخرون
منشور في: (2024-03-01)

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
حسب: Tuva Å. Solheim, وآخرون
منشور في: (2021-07-01)

The utrophin and dystrophin genes share similarities in genomic structure.
حسب: Pearce, M, وآخرون
منشور في: (1993)

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle
حسب: Katherine M. Kaplan, وآخرون
منشور في: (2022-11-01)

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey
حسب: M Royuela, وآخرون
منشور في: (2009-06-01)

MLPAnalyzer: Data Analysis Tool for Reliable Automated Normalization of MLPA Fragment Data
حسب: Jordy Coffa, وآخرون
منشور في: (2008-01-01)

The Duchenne and Becker muscular dystrophy gene and protein product dystrophin
حسب: Monaco, A
منشور في: (1989)

Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene.
حسب: Monaco, A
منشور في: (1989)

OPTIMIZATION OF PLASMA CELL ENRICHMENT FOR CNV DETECTION BY SNP ARRAY AND MLPA
حسب: MIHAIELA LOREDANA DRAGOS, وآخرون
منشور في: (2022-06-01)

Quantitative analysis of the dystrophin gene by real-time PCR
حسب: Maksimovic Nela, وآخرون
منشور في: (2012-01-01)

Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy.
حسب: Areen T. Ramadhan Al-Hadithi, وآخرون
منشور في: (2014-07-01)

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
حسب: Priyanshu Mathur, وآخرون
منشور في: (2025-06-01)

Dystrophin in Fetal Muscle
حسب: J Gordon Millichap
منشور في: (1992-05-01)

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse.
حسب: Lu, Q, وآخرون
منشور في: (2003)

Multi-Linear Population Analysis (MLPA) of LFP Data Using Tensor Decompositions
حسب: Justen Geddes, وآخرون
منشور في: (2020-09-01)

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD
حسب: Tian Lan, وآخرون
منشور في: (2024-11-01)

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
حسب: Natália O. Mota, وآخرون
منشور في: (2017-10-01)

A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy
حسب: Abdelbaset Mohamed Elasbali, وآخرون
منشور في: (2025-02-01)

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
حسب: Kane L Greer, وآخرون
منشور في: (2014-01-01)

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report
حسب: Yan Wang, وآخرون
منشور في: (2020-11-01)

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient
حسب: Hao Yu, وآخرون
منشور في: (2017-01-01)

Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
حسب: Wittaya Jomoui, وآخرون
منشور في: (2023-06-01)