Achondroplasia And Swiss Type Agammaglobulinemia
Last Posted: Feb 12, 2016
- Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Orhant Lucie, et al. Prenatal diagnosis 2016 2
- Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida M R, et al. Clinical genetics 2009 2 (2) 150-6
- Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
Hung Chia-Cheng, et al. Clinical biochemistry 2008 2 (3) 162-6
- An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Etlik Ozdal, et al. Molecular and cellular probes 2008 4 (2) 71-5
- Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.
Satiroglu-Tufan N Lale, et al. The Tohoku journal of experimental medicine 2006 2 (2) 103-7
- Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
Su Yi-Ning, et al. Journal of human genetics 2004 0 (8) 399-403
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