Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. - Wikidata - wikimedia - TriplyDB

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

http://www.wikidata.org/entity/Q37340016

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Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing Clinical and genetic characterization of manifesting carriers of DMD mutations Carrier detection in Duchenne muscular dystrophy using molecular methods.Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database Targeted exon skipping to correct exon duplications in the dystrophin gene.Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

http://www.wikidata.org/entity/Q37340016

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 26 January 2007

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Measurement of the clinical ut ...... and Becker muscular dystrophy.

@en

Measurement of the clinical ut ...... and Becker muscular dystrophy.

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type

label

Measurement of the clinical ut ...... and Becker muscular dystrophy.

@en

Measurement of the clinical ut ...... and Becker muscular dystrophy.

@nl

prefLabel

Measurement of the clinical ut ...... and Becker muscular dystrophy.

@en

Measurement of the clinical ut ...... and Becker muscular dystrophy.

@nl

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JMG.2006.047464

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Journal of Medical Genetics

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Measurement of the clinical ut ...... and Becker muscular dystrophy.

@en

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Aurora Baumli

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Benito Prósper-Gutiérrez

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Christopher G Bell

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Corrina Walsh

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David R Mowat

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Fernando De La Puente-Alonso

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George Elakis

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Glenda L Mullan

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Heather M Johnston

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Michael F Buckley

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P2860

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

Rapid direct sequence analysis of the dystrophin gene

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

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368-372

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10.1136/JMG.2006.047464

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