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Article

Potential modifier role of the R618Q variant of proalpha2(I)collagen in type I collagen fibrillogenesis: in vitro assembly analysis.

Molecular genetics and metabolism - 1 Jun 2004

Vomund Anthony N, Braddock Stephen R, Krause Gary F, Phillips Charlotte L

Abstract excerpt

An arginine to glutamine substitution in the triple helix of proalpha2(I)collagen (R618Q) was first reported in a patient with a variant of Marfan syndrome and later identified in conjunction with a second mutation in a patient with osteogenesis imperfecta (OI). The presence of the R618Q proalpha...

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Source

Identifiers

PMID: 15172002
DOI: 10.1016/j.ymgme.2004.03.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15172002-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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