Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing

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http://hdl.handle.net/10138/161818

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Uusitalo , E , Hammais , A , Palonen , E , Brandt , A , Makela , V-V , Kallionpaa , R , Jouhilahti , E-M , Poyhonen , M , Soini , J , Peltonen , J & Peltonen , S 2014 , ' Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing ' , Acta Dermato-Venereologica , vol. 94 , no. 6 , pp. 663-666 . https://doi.org/10.2340/00015555-1843

Title: Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing
Author: Uusitalo, Elina; Hammais, Anna; Palonen, Elina; Brandt, Annika; Makela, Ville-Veikko; Kallionpaa, Roope; Jouhilahti, Eeva-Mari; Poyhonen, Minna; Soini, Juhani; Peltonen, Juha; Peltonen, Sirkku
Contributor: University of Helsinki, University of Turku
University of Helsinki, Haartman Institute (-2014)
Date: 2014
Language: eng
Number of pages: 4
Belongs to series: Acta Dermato-Venereologica
ISSN: 0001-5555
URI: http://hdl.handle.net/10138/161818
Subject: mutation analysis
neurofibromatosis type 1
next-generation sequencing
pyrosequencing
saliva DNA
target enrichment
NF1 MICRODELETION
RECOMBINATION
PSEUDOGENE
MOSAICISM
SALIVA
DNA
3111 Biomedicine
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