首页> Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia> Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

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第一作者： Dilek,Gun Bilgic

第一单位： Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey. Electronic address: dilek.bilgic@cbu.edu.tr.

作者： Dilek,Gun Bilgic ^[1] ; Hamide Betul,Gerik Celebi ^[2] ; Aydeniz,Aydin Gumus ^[3] ; Abdulkadir,Bilgic ^[4] ; Havva,Yazici ^[5] ; Serdar,Ceylaner ^[6] ; Celil,Yilmaz ^[7] ; Muzaffer,Polat ^[7] ; Melike,Akbal Sahin ^[6] ; Fatma,Dereli ^[6] ; Fethi Sirri,Cam ^[3]

作者单位： Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey. Electronic address: dilek.bilgic@cbu.edu.tr. ^[1] Department of Medical Genetics, Balıkesir City Hospital, Balıkesir, Turkey. ^[2] Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey. ^[3] Department of Orthopaedics and Traumatology, Manisa City Hospital, Manisa, Turkey. ^[4] Department of Pediatric Metabolic Disease, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey. ^[5] INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey. ^[6] Department of Pediatric Neurology, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey. ^[7]

关键词 DDHD2 MPSIIIB NAGLU Novel SPG54 WES