About: A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene

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About: A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene Goto Sponge Distinct Permalink

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Description	Doplnit stavájicí DNA banku souboru NF 1 pacientů o RNA banku. Zavést metodu FASAY na kontrolních cDNA vzorcích s potvrzenou mutací v GRD doméně i mimo ni. Aplikace optimalizované FASAY na připravený soubor NF1 pacientů (RNA banka) a verifikace sekvenční změny na úrovni DNA. Stanovit výpovědní hodnotu výsledků získaných metodou FASAY a pokusit se odhadnout vliv definovaného genotypu na fenotyp. (cs) Completation of DNA bank of NF patients and establishment of RNA bank of the same patients Initiation of FASAY methodology with control cDNA samples, which include verificated mutation in GRD region and in DNA sequence out of this region Aplication of optimalised FASAY method to established group of NF patients (RNA bank) and verification of defined functional changes by FASAY on DNA level Determination of result values obtained by FASAY and attemptation about assessing of effect defined genotype to phenotype (en)
Title	A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene (en) Funkční analýza heterozygotních mutací v centrální oblasti (GRD) genu pro neurofibromin (NF1). (cs)
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http://linked.open...vai/klicova-slova	NF1 gene;FASAY;NF GRD;p21RAS;tumor suppressor;functional analysis;mutation decetion ;RT-PCR (en)
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is http://linked.open...ain/vavai/projekt of	http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2003/NM7627/ico-65269705 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2004/NM7627/ico-65269705

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