ORIGINAL ARTICLE <BR>Usefulness of chosen molecular techniques in analysis of mutation of <I>NF1</I> gene in patients with neurofibromatosis type I

Robert Świder; Zofia Szczerkowska; Waldemar Placek; Aneta Szczerkowska-Dobosz; Krzysztof Rębała

eISSN: 2299-0046
ISSN: 1642-395X

Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii

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1/2006
vol. 23

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abstract:

ORIGINAL ARTICLE
Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I

Robert Świder

,

Zofia Szczerkowska

,

Waldemar Placek

,

Aneta Szczerkowska-Dobosz

,

Krzysztof Rębała

Post Dermatol Alergol 2006; XXIII, 1: 1–4

Online publish date: 2006/02/24

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AMA

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:

ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I

Robert Świder , Zofia Szczerkowska , Waldemar Placek , Aneta Szczerkowska-Dobosz , Krzysztof Rębała

molecular techniques in analysis of mutation of NF1 gene, SSCP, HD, sequencing analysis

ORIGINAL ARTICLE
Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I

Robert Świder

,

Zofia Szczerkowska

,

Waldemar Placek

,

Aneta Szczerkowska-Dobosz

,

Krzysztof Rębała