Świder R, Szczerkowska Z, Placek W, Szczerkowska-Dobosz A, Rębała K. ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2006;23(1):1-4.
APA
Świder, R., Szczerkowska, Z., Placek, W., Szczerkowska-Dobosz, A., & Rębała, K. (2006). ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 23(1), 1-4.
Chicago
Świder, Robert, Zofia Szczerkowska, Waldemar Placek, Aneta Szczerkowska-Dobosz, and Krzysztof Rębała. 2006. "ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I". Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii 23 (1): 1-4.
Harvard
Świder, R., Szczerkowska, Z., Placek, W., Szczerkowska-Dobosz, A., and Rębała, K. (2006). ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 23(1), pp.1-4.
MLA
Świder, Robert et al. "ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I." Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, vol. 23, no. 1, 2006, pp. 1-4.
Vancouver
Świder R, Szczerkowska Z, Placek W, Szczerkowska-Dobosz A, Rębała K. ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2006;23(1):1-4.
Neurofibromatosis is genetic disease with autosomal dominant inheritance. The most frequent form is neurofibromatosis type I (NFI). The onset of the disease is in early childhood or late. Clinical manifestations include macular lesions and neurofibromas of the skin, accompanied by internal organs involvement. For searching mutations of 5 exons of NF1 gene: 4b, 11, 22, 27, 37 with the most frequent mutations we have analyzed DNA isolated from blood and tumors patients with NFI. Chosen molecular techniques: SSCP, HD and sequencing were applied in the study. No mutations in DNA isolated from blood patients with NFI and control group were detected. New mutation within exon 4b in one tumors sample which was sequenced.
Keywords
molecular techniques in analysis of mutation of NF1 gene, SSCP, HD, sequencing analysis
