Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene

Journal of Molecular Neuroscience

Volumn 53, Issue 2, 2014, Pages 204-210

  Balla, Bernadett ^a,b   Árvai, Kristóf ^b   Horváth, Péter ^a   Tobiás, Bálint ^a   Takács, István ^a   Nagy, Zsolt ^a   Dank, Magdolna ^a   Fekete, György ^a   Kósa, János P ^a,b   Lakatos, Péter ^a,b  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b PentaCore Laboratory   (Hungary)

Author keywords

Genetics; Ion Torrent; Neurofibromatosis; Next generation sequencing

Indexed keywords

GENOMIC DNA; NEUROFIBROMIN;

AMPLICON; ARTICLE; CAFE AU LAIT SPOT; CHILD; CLINICAL ARTICLE; COMPUTER PROGRAM; DNA ISOLATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; INFANT; ION TORRENT SEQUENCING; MACHINE; MALE; NEUROFIBROMATOSIS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION SYSTEM; SPONTANEOUS MUTATION; DNA SEQUENCE; GENETICS; MUTATION; NEUROFIBROMATOSIS 1; PERSONALIZED MEDICINE; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; FEMALE; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDIVIDUALIZED MEDICINE; INFANT; MALE; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84901450357     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-014-0286-7     Document Type: Article

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