Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

导出 OA

翻译打印收藏纠错

作者： Vivian Pedigone,Cintra ^[1] ; Maike F,Dohrn ^[2] ; Pedro José,Tomaselli ^[3] ; Fernanda Barbosa,Figueiredo ^[3] ; Sandra Elisabete,Marques ^[3] ; Sarah Teixeira,Camargos ^[4] ; Luiz Sergio Mageste,Barbosa ^[4] ; Adriana,P Rebelo ^[5] ; Lisa,Abreu ^[5] ; Matt,Danzi ^[5] ; Wilson,Marques ^[6] ; Stephan,Züchner ^[7]

作者单位： Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil; Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA. ^[1] Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[2] Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil. ^[3] Federal University of Minas Gerais, Belo Horizonte, MG, Brazil. ^[4] Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA. ^[5] Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil. Electronic address: wmjunior@fmrp.usp.br. ^[6] Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA. Electronic address: szuchner@med.miami.edu. ^[7]

关键词 Autonomic disturbances Congenital insensitivity to pain Hereditary sensory neuropathy Mutation Next generation sequencing