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Article

Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.

Calcified tissue international - 1 Oct 2014

Rauch Frank, Lalic Liljana, Glorieux Francis H, Moffatt Pierre, Roughley Peter

Abstract excerpt

Metabolic bone disorders in children frequently are heritable, but the expanding number of genes associated with these conditions makes it difficult to perform molecular diagnosis. In the present study, we therefore evaluated a semiconductor (SC)-based sequencing system for this purpose. A total of 65 DNA samples were analyzed comprising 24 samples from patients with 27 known pathogenic mutations, 6 samples from...

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PMID: 25086671
DOI: 10.1007/s00223-014-9897-9

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LRP5
PHEX

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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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