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Article

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

Molecular genetics and metabolism - 1 Jan 2000

Giunta Cecilia, Randolph Ann, Steinmann Beat

Abstract excerpt

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the...

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Source

Identifiers

PMID: 15979919
DOI: 10.1016/j.ymgme.2005.04.014

Genes

PLOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).PMID 15979919Read ↗

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