Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
Author(s) -
Seda Kanmaz,
Erdem Şimşek,
Hepsen Mine Serin,
Murat Kadri Erdoğan,
Sanem Yılmaz,
Gül Aktan,
Hasan Tekgül,
Sarenur Gökben
Publication year - 2019
Publication title -
the journal of pediatric research
Language(s) - English
Resource type - Journals
eISSN - 2587-2478
pISSN - 2147-9445
DOI - 10.4274/jpr.galenos.2018.60590
Subject(s) - medicine , multiplex ligation dependent probe amplification , palsy , weakness , foot pressure , pediatrics , multiplex , ligation , surgery , anesthesia , pathology , bioinformatics , pressure sensor , genetics , gene , alternative medicine , biology , exon , physics , thermodynamics
Ad dress for Cor res pon den ce Seda Kanmaz MD, Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey Phone: +90 232 390 12 55 E-mail: drsedakanmaz@gmail.com ORCID ID: orcid.org/0000-0002-8738-1242 Re cei ved: 09.02.2018 Ac cep ted: 06.09.2018 1Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey 2University of Health Sciences, Tepecik Training and Research Hospital, Clinic of Medical Genetics, İzmir, Turkey Seda Kanmaz1, Erdem Şimşek1, Hepsen Mine Serin1, Murat Kadri Erdoğan2, Sanem Yılmaz1, Gül Aktan1, Hasan Tekgül1, Sarenur Gökben1
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