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Article

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Orphanet journal of rare diseases - 22 Aug 2016

Laššuthová Petra, Šafka Brožková Dana, Krůtová Marcela, Neupauerová Jana, Haberlová Jana, Mazanec Radim, Dřímal Pavel, Seeman Pavel

Abstract excerpt

BACKGROUND: Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity. METHODS: In our study, we have designed, validated and updated our own...

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Identifiers

PMID: 27549087
DOI: 10.1186/s13023-016-0500-5
PMCID: PMC4994270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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