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Article

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2011

Leistritz Dru F, Pepin Melanie G, Schwarze Ulrike, Byers Peter H

Abstract excerpt

PURPOSE: To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos syndrome type IV, the vascular type. METHODS: We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed the clinical and family histories and medical complications in 54 individuals from these families with COL3A1 null...

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PMID: 21637106
DOI: 10.1097/GIM.0b013e3182180c89

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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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