Article
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
Journal of molecular neuroscience : MN - 1 Jan 2007
Bendova Sarka, Krepelova Anna, Petrak Borivoj, Kinstova Lenka, Musova Zuzana, Rausova Eva, Marikova Tatana
Abstract excerpt
Neurofibromatosis type 1 (NF1) is one of the most common inherited human disorders, with an estimated incidence of 1 per 3500 births. In most cases, the disease is caused either by mutation in the NF1 gene, or by a particular or complete deletion of the NF1 gene. The NF1 gene exhibits one of the highest mutation rates of any human disorder. In this experimental study of the NF1 gene, we screened the mutational...
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