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Article

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

The Journal of investigative dermatology - 1 May 2005

Walker Linda C, Overstreet Mayra A, Siddiqui Adnan, De Paepe Anne, Ceylaner Gulay, Malfait Fransiska, Symoens Sofie, Atsawasuwan Phimon, Yamauchi Mitsuo, Ceylaner Serdar, Bank Ruud A, Yeowell Heather N

Abstract excerpt

The clinical diagnosis of a patient with the phenotype of Ehlers-Danlos syndrome type VI was confirmed biochemically by the severely diminished level of lysyl hydroxylase (LH) activity in the patient's skin fibroblasts. A novel homozygous mutation, a single base change of T(1360)-->G in exon 13 of the LH1 gene, predicted to result in W446G, was identified in the patient's full-length cDNA. This was confirmed in...

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Identifiers

PMID: 15854030
DOI: 10.1111/j.0022-202X.2005.23727.x

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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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A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.PMID 15854030Read ↗

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