The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan
The c.1138G>A Variant of Fibroblast Growth Factor Receptor 3 is a Common Cause of Achondroplasia in Pakistan
Niaz Muhammad1, Samina Yasin1, Zunaira Fatima1, Noor ul Ain1,
Muhammad Faizan2 and Sadaf Naz1*
(a) Pedigree of the family ACH8 in which members exhibited dominantly inherited achondroplasia. (b) Chromatogram for FGFR3 selected region showing the most common transition c.G1138>A variant. The arrow indicates the point of mutation.