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Article

A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.

Journal of cellular biochemistry - 1 Jan 2014

Suh Ye-Jin, Bae Han-Sol, Choi Jin-Young, Lee Jong-Ho, Kim Myung-Jin, Kim Sukwha, Ryoo Hyun-Mo, Baek Seung-Hak

Abstract excerpt

The purposes of this study were to find a novel mutation of FGFR2 in Korean Crouzon syndrome patients and to identify the functional consequences of this mutation. The samples consisted of 16 Crouzon patients. Peripheral venous blood was collected from the patients. FGFR2 mutation screening was performed by direct PCR sequencing of all exons and part of the introns. Restriction fragment length polymorphism (RFLP)...

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Identifiers

PMID: 23913723
DOI: 10.1002/jcb.24637

Genes

FGFR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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