Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

Acta Dermato-Venereologica

Volumn 94, Issue 6, 2014, Pages 663-666

  Uusitalo, Elina ^a   Hammais, Anna ^b   Palonen, Elina ^c   Brandt, Annika ^c   Mäkelä, Ville Veikko ^c   Kallionpää, Roope ^a,b   Jouhilahti, Eeva Mari ^a,d   Pöyhönen, Minna ^e,f   Soini, Juhani ^c   Peltonen, Juha ^a   Peltonen, Sirkku ^b  

^a UNIVERSITY OF TURKU   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c TURKU UNIVERSITY OF APPLIED SCIENCES   (Finland)

^d KAROLINSKA INSTITUTE   (Sweden)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Mutation analysis; Neurofibromatosis type 1; Next generation sequencing; Pyrosequencing; Saliva DNA; Target enrichment

Indexed keywords

GENOMIC DNA; MESSENGER RNA; NEUROFIBROMIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA BASE COMPOSITION; DNA FLANKING REGION; DNA ISOLATION; EXON; GENE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; INTRON; NEUROFIBROMATOSIS; PYROSEQUENCING; SALIVA ANALYSIS; SEQUENCE ANALYSIS; SEQUENCE CAPTURE; SINGLE NUCLEOTIDE POLYMORPHISM; CHEMISTRY; GENETIC PREDISPOSITION; GENETICS; MUTATION; NEUROFIBROMATOSIS 1; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PROCEDURES; SALIVA; TUMOR SUPPRESSOR GENE;

DNA MUTATIONAL ANALYSIS; EXONS; GENES, NEUROFIBROMATOSIS 1; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MUTATION; NEUROFIBROMATOSIS 1; PREDICTIVE VALUE OF TESTS; SALIVA;

EID: 84907988181     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.2340/00015555-1843     Document Type: Article

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