Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene.
about
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressorNeurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technologyClinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 GeneThe NF1 gene in tumor syndromes and melanoma.Pseudoangiomatous stromal hyperplasia with multinucleated stromal giant cells is neither exceptional in gynecomastia nor characteristic of neurofibromatosis type 1.
P2860
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P2860
Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene.
description
2014 nî lūn-bûn
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name
Fast and robust next-generatio ...... ibromatosis type 1 (NF1) gene.
@en
Fast and robust next-generatio ...... ng of neurofibromatosis type 1
@nl
type
label
Fast and robust next-generatio ...... ibromatosis type 1 (NF1) gene.
@en
Fast and robust next-generatio ...... ng of neurofibromatosis type 1
@nl
prefLabel
Fast and robust next-generatio ...... ibromatosis type 1 (NF1) gene.
@en
Fast and robust next-generatio ...... ng of neurofibromatosis type 1
@nl
P2093
P2860
P1476
Fast and robust next-generatio ...... ibromatosis type 1 (NF1) gene.
@en
P2093
Bernadett Balla
Bálint Tobiás
György Fekete
István Takács
János P Kósa
Kristóf Árvai
Magdolna Dank
Péter Horváth
Péter Lakatos
Zsolt Nagy
P2860
P2888
P304
P356
10.1007/S12031-014-0286-7
P577
2014-03-28T00:00:00Z