The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study

Genetic Testing and Molecular Biomarkers

Volumn 18, Issue 11, 2014, Pages 722-735

  Maruoka, Ryo ^a,b   Takenouchi, Toshiki ^a   Torii, Chiharu ^a   Shimizu, Atsushi ^c   Misu, Kumiko ^a   Higasa, Koichiro ^d   Matsuda, Fumihiko ^d   Ota, Arihito ^e   Tanito, Katsumi ^e   Kuramochi, Akira ^f   Arima, Yoshimi ^a   Otsuka, Fujio ^g   Yoshida, Yuichi ^h   Moriyama, Keiji ^b   Niimura, Michihito ^e   Saya, Hideyuki ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c IWATE MEDICAL UNIVERSITY   (Japan)

^d KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f SAITAMA MEDICAL UNIVERSITY   (Japan)

^g UNIVERSITY OF TSUKUBA   (Japan)

^h TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL TRIAL; EXON; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MOLECULAR DIAGNOSIS; MULTICENTER STUDY; MUTATION; NEUROFIBROMATOSIS TYPE 1; NUCLEOTIDE SEQUENCE; PROCEDURES; TUMOR SUPPRESSOR GENE; VALIDATION STUDY;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, NEUROFIBROMATOSIS 1; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NEUROFIBROMATOSIS 1;

EID: 84933518597     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2014.0109     Document Type: Article

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