Novel SNP at the common primer site of exon IIIa ofFGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference13 articles.
1. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
2. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
3. Preparation and Validation of PCR-generated Positive Controls for Diagnostic Dot Blotting
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2. Massively Parallel Sequencing Detected a Mutation in theMFN2Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site;Annals of Human Genetics;2016-02-24
3. S267P Mutation in FGFR2;Journal of Craniofacial Surgery;2015-03
4. Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review;Pediatric Neurology;2014-05
5. A Novel FGFR2 Mutation in Tyrosine Kinase II Domain, L617F, in Crouzon Syndrome;Journal of Cellular Biochemistry;2013-11-14
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