@Article{Świder2006,
journal="Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii",
issn="1642-395X",
volume="23",
number="1",
year="2006",
title="ORIGINAL ARTICLE Usefulness of chosen molecular techniques in analysis of mutation of NF1 gene in patients with neurofibromatosis type I",
abstract="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.",
author="Świder, Robert
and Szczerkowska, Zofia
and Placek, Waldemar
and Szczerkowska-Dobosz, Aneta
and Rębała, Krzysztof",
pages="1--4",
url="https://www.termedia.pl/ORIGINAL-ARTICLE-Usefulness-of-chosen-molecular-techniques-in-analysis-of-mutation-of-NF1-gene-in-patients-with-neurofibromatosis-type-I,7,5602,1,1.html"
}