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Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Gun Bilgic, Dilek; Gerik Celebi, Hamide Betul; Aydin Gumus, Aydeniz; Bilgic, Abdulkadir; Yazici, Havva; Ceylaner, Serdar; Yilmaz, Celil; Polat, Muzaffer; Akbal Sahin, Melike; Dereli, Fatma; Cam, Fethi Sirri.
Afiliação
  • Gun Bilgic D; Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey. Electronic address: dilek.bilgic@cbu.edu.tr.
  • Gerik Celebi HB; Department of Medical Genetics, Balikesir City Hospital, Balikesir, Turkey.
  • Aydin Gumus A; Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey.
  • Bilgic A; Department of Orthopaedics and Traumatology, Manisa City Hospital, Manisa, Turkey.
  • Yazici H; Department of Pediatric Metabolic Disease, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey.
  • Ceylaner S; INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey.
  • Yilmaz C; Department of Pediatric Neurology, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey.
  • Polat M; Department of Pediatric Neurology, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey.
  • Akbal Sahin M; INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey.
  • Dereli F; INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey.
  • Cam FS; Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey.
J Clin Neurosci ; 82(Pt B): 214-218, 2020 Dec.
Article em En | MEDLINE | ID: mdl-33246910
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia / Acetilglucosaminidase / Mucopolissacaridose III Limite: Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia / Acetilglucosaminidase / Mucopolissacaridose III Limite: Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article