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The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation

In: General Physiology and Biophysics, vol. 36, no. 2
Martina Sekelska - Lenka Briatkova - Tomas Olcak - Anna Bolcekova - Denisa Ilencikova - Ludevit Kadasi - Andrea Zatkova
Detaily:
Rok, strany: 2017, 205 - 210
O článku:
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c.46C>T (p.Arg16*) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome. This mutation was reported previously.
Ako citovať:
ISO 690:
Sekelska, M., Briatkova, L., Olcak, T., Bolcekova, A., Ilencikova, D., Kadasi, L., Zatkova, A. 2017. The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation. In General Physiology and Biophysics, vol. 36, no.2, pp. 205-210. 0231-5882.

APA:
Sekelska, M., Briatkova, L., Olcak, T., Bolcekova, A., Ilencikova, D., Kadasi, L., Zatkova, A. (2017). The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation. General Physiology and Biophysics, 36(2), 205-210. 0231-5882.