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Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Straussberg, Rachel; Onoufriadis, Alexandros; Konen, Osnat; Zouabi, Yasmin; Cohen, Lior; Lee, John Y W; Hsu, Chao-Kai; Simpson, Michael A; McGrath, John A.
Afiliação
  • Straussberg R; Neurogenetic Clinic, Neurology Institute, Schneider Children's Medical Center, Petah Tikva, Israel.
  • Onoufriadis A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Konen O; St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK.
  • Zouabi Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Cohen L; Radiology Institute, Schneider Children's Medical Center, Petah Tikva, Israel.
  • Lee JYW; Neurogenetic Clinic, Neurology Institute, Schneider Children's Medical Center, Petah Tikva, Israel.
  • Hsu CK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Simpson MA; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • McGrath JA; Genetic Institute, Schneider Children's Medical Center, Petah Tikva, Israel.
Am J Med Genet A ; 173(11): 3109-3113, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28884889
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / 5'-Nucleotidase / Deficiência Intelectual Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / 5'-Nucleotidase / Deficiência Intelectual Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article