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

書誌詳細
主要な著者:	Skinner, A, Ashton, E, Sillibourne, J, Brown, T, Collins, A, Bunyan, D
フォーマット:	Conference item
出版事項:	2005

類似資料

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
著者:: Bunyan, D, 等
出版事項: (2007)

MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients.
著者:: Bunyan, D, 等
出版事項: (2004)

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
著者:: Sekar Deepha, 等
出版事項: (2017-06-01)

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
著者:: María Luisa Guevara‐Fujita, 等
出版事項: (2021-09-01)

Identification of Exonic Copy Number Variations in Dystrophin Gene Using Mlpa / Identificarea Variaţiilor Numărului de Copii în Gena Distrofinei Folosind Metoda Mlpa
著者:: Rusu Cristina, 等
出版事項: (2014-12-01)

Identification of gross deletions in FBN1 gene by MLPA
著者:: Hang Yang, 等
出版事項: (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
著者:: Keitaro YAMANOUCHI, 等
出版事項: (2024-01-01)

DELETIONS WITHIN THE DYSTROPHIN GENE RESULTING FROM REPLICATION ERRORS
著者:: Baldrich, K, 等
出版事項: (1991)

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
著者:: Sue Fletcher, 等
出版事項: (2012-01-01)

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
著者:: Ola M. Eid, 等
出版事項: (2022-07-01)

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

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
著者:: Rasic Milic V., 等
出版事項: (2014-12-01)

DIVERSITY OF THE DYSTROPHIN GENE-PRODUCTS
著者:: Chelly, J, 等
出版事項: (1993)

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
著者:: Peter J Taylor, 等
出版事項: (2010-01-01)

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example
著者:: Malgorzata Marcinkowska, 等
出版事項: (2010-01-01)

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
著者:: Amel Saoudi, 等
出版事項: (2024-12-01)

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
著者:: Darras Basil T, 等
出版事項: (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
著者:: Gallienne, A, 等
出版事項: (2009)

Function and genetics of dystrophin and dystrophin-related proteins in muscle.
著者:: Blake, D, 等
出版事項: (2002)

Rapid screening for chromosomal aneuploidies using array-MLPA
著者:: van Beuningen Rinie, 等
出版事項: (2011-05-01)

MLPA for confirmation of array CGH results and determination of inheritance
著者:: Thomas Helen, 等
出版事項: (2010-10-01)

Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses
著者:: Sandra Herman, 等
出版事項: (2012-01-01)

Phenotypic features of dystrophin gene knockout pigs harboring a human artificial chromosome containing the entire dystrophin gene
著者:: Masahito Watanabe, 等
出版事項: (2023-09-01)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
著者:: Marcella Neri, 等
出版事項: (2020-03-01)

The Spectrum of Dystrophin Gene Mutations in Duchene Muscular Dystrophy Patients of South-Western Maharashtra in India
著者:: Kailas D. Datkhile, 等
出版事項: (2015-04-01)

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
著者:: Triana-Fonseca P, 等
出版事項: (2021-10-01)

MLPA in the initial genetic screening of patients with acute myeloid leukemia
著者:: Yahya Dinnar, 等
出版事項: (2024-03-01)

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
著者:: Tuva Å. Solheim, 等
出版事項: (2021-07-01)

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle
著者:: Katherine M. Kaplan, 等
出版事項: (2022-11-01)

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey
著者:: M Royuela, 等
出版事項: (2009-06-01)

The utrophin and dystrophin genes share similarities in genomic structure.
著者:: Pearce, M, 等
出版事項: (1993)

MLPAnalyzer: Data Analysis Tool for Reliable Automated Normalization of MLPA Fragment Data
著者:: Jordy Coffa, 等
出版事項: (2008-01-01)

The Duchenne and Becker muscular dystrophy gene and protein product dystrophin
著者:: Monaco, A
出版事項: (1989)

Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene.
著者:: Monaco, A
出版事項: (1989)

OPTIMIZATION OF PLASMA CELL ENRICHMENT FOR CNV DETECTION BY SNP ARRAY AND MLPA
著者:: MIHAIELA LOREDANA DRAGOS, 等
出版事項: (2022-06-01)

ProSeeK: A web server for MLPA probe design
著者:: Villatoro Sergi, 等
出版事項: (2008-11-01)

Quantitative analysis of the dystrophin gene by real-time PCR
著者:: Maksimovic Nela, 等
出版事項: (2012-01-01)

Molecular Characterization of Dystrophin Gene in Iraqi Patients with Muscular Dystrophy.
著者:: Areen T. Ramadhan Al-Hadithi, 等
出版事項: (2014-07-01)

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
著者:: Priyanshu Mathur, 等
出版事項: (2025-06-01)

Dystrophin in Fetal Muscle
著者:: J Gordon Millichap
出版事項: (1992-05-01)