Article
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Annals of human genetics - 1 Sept 2013
Nemethova Martina, Bolcekova Anna, Ilencikova Denisa, Durovcikova Darina, Hlinkova Katarina, Hlavata Anna, Kovacs Laszlo, Kadasi Ludevit, Zatkova Andrea
Abstract excerpt
We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had café-au-lait spots, 85% had axilary and/or inguinal freckling, 61% neurofibromas, 36% Lisch nodules of the iris and 31% optic pathway glioma, 5% suffered from typical skeletal disorders, and 51%...
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