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Article

Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.

Genetic testing and molecular biomarkers - 1 Apr 2011

Yaguchi Hiromoto, Ikeda Takayuki, Osada Hiromi, Yoshitake Yoshino, Sasaki Hiroshi, Yonekura Hideto

Abstract excerpt

Stickler syndrome type I is caused by mutations in the type II collagen gene (COL2A1), which is specifically expressed in cartilage and vitreous humor. We developed a simple and noninvasive strategy for identifying the COL2A1 mutation using RNA from freshly isolated peripheral white blood cells and identified a new 3' splice site mutation in a Japanese family with Stickler syndrome. RNA was isolated from a...

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Identifiers

PMID: 21186996
DOI: 10.1089/gtmb.2010.0138

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

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Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.PMID 21186996Read ↗

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A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.Semantic proximity Read ↗

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