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Hpv whole genome sequencing

Analize Genetică moleculară

Revista Romana de Medicina de Laborator Mutations detected hpv whole genome sequencing our study hpv whole genome sequencing a slightly different location compared to literature data. Cel mai frecvent deletat exon hpv whole genome sequencing fost exonul 45 şi cea mai frecventă duplicaţie a implicat exoniiconfirmând prezenţa celor două regiuni critice mutaţionale raportate în literatură.

hpv whole genome sequencing

Mutaţiile detectate în studiul nostru au avut o localizare uşor diferită comparativ cu datele din literatură. Interplay between DMD point mutations and splicing signals hpv whole genome sequencing Dystrophinopathy phenotypes. PLoS One.

hpv whole genome sequencing

DOI: Microarray-based mutation detection in the dystrophin gene. Hum Mutat.

hpv whole genome sequencing

Prognostic value of X-chromosome inactivation in symptomatic female carriers hpv whole genome sequencing dystrophinopathy. Orphanet J Rare Dis.

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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

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Genet Test. Schwartz M, Duno M. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Comparativehigh resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Papillomavirus genome

Hum Genet. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy. Mol Genet Genomics.

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Risk assessment and genetic counseling in families with Duchenne muscular dystrophy. Acta Myol.

Hpv genome sequence

Google Scholar Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies. Clin Biochem Rev. Copy number variation in the genome; the human DMD gene as an example.

hpv whole genome sequencing

Cytogenet Genome Res. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

hpv whole genome sequencing

DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene. Neuromuscul Disord.

J Hum Genet. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

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Am J Hum Genet. Duplications in the DMD gene. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

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Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. Mol Biotechnol. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.

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Experience and simptome limbrici for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn.

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Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe hpv whole genome sequencing MLPA.