2016
DOI: 10.20944/preprints201609.0024.v1
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Identification of One <em>BOCR</em> Mutation and Five <em>NF1</em> Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the Tibia

Abstract: Neurofibromatosis type1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1gene. Although congenital pseudarthrosis of the tibia (CPT) has frequently been associated with NF1, the underlying molecular mechanism of CPT in these NF1 patients is yet ill-understood. The aim of the present study was to detect NF1 mutations from genomic DNA and to harbor variants associated with CPT in NF1 patients. Whole-exome sequencing was first carried out with samples from two patients with CPT in one NF1 fam… Show more

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“…There is also 2 samples with Rubulavirus which causes mumps, but both are in 2007 -and there are no recent instances of this virus. The Sewage-associated-gemycircularvirus [5] is found in the cerebrospinal fluid from patients with encephalitis [6].…”
Section: Lettermentioning
confidence: 99%
“…There is also 2 samples with Rubulavirus which causes mumps, but both are in 2007 -and there are no recent instances of this virus. The Sewage-associated-gemycircularvirus [5] is found in the cerebrospinal fluid from patients with encephalitis [6].…”
Section: Lettermentioning
confidence: 99%