1 articles published in Selcuk Medical Journal with the keyword "heterozigot mutasyon": A case report of Neurofibromatosis type 1 diagnosed with a noval mutation detection in NF1 gene
NAFİZ YAŞA, BÜŞRA ESER ÇAVDARTEPE, FAHRETTİN DUYMUŞ, NADİR KOÇAK, TÜLİN ÇORA
2019, Vol 35, Issue 4, Page 274-277
Neurofibromatosis type I (NF1) is a complex disorder caused by mutations of the neurofibromin protein-encoding gene on the chromosome 17. NF1 is an autosomal dominant disorder. The prevalence of NF1 is approximately 1:2500 to 1:3500. Both genders are equally affected. Herein, we report a...
NF1 Yeni mutasyon yeni nesil sekans sistemi A novel mutation heterozygous mutation NGS system
