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Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
Mandel, Hanna; Cohen Katsanelson, Ksenya; Khayat, Morad; Chervinsky, Ilana; Vladovski, Eugene; Iancu, Theodor C; Indelman, Margarita; Horovitz, Yoseph; Sprecher, Eli; Shalev, Stavit A; Spiegel, Ronen.
Afiliação
  • Mandel H; Metabolic Unit, Rambam Medical Center, Israel; Rappaport School of Medicine, Technion Haifa, Israel.
  • Cohen Katsanelson K; Department of Pharmacology, University of California, San Diego, CA, USA.
  • Khayat M; Rappaport School of Medicine, Technion Haifa, Israel; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Chervinsky I; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Vladovski E; Department of Pathology, Rambam Medical Center, Israel.
  • Iancu TC; Milman-David Biomedical Research Unit, Haifa, Israel.
  • Indelman M; Rappaport School of Medicine, Technion Haifa, Israel; Department of Dermatology, Rambam Medical Center, Israel.
  • Horovitz Y; Rappaport School of Medicine, Technion Haifa, Israel; Pediatric Department A', Emek Medical Center, Afula, Israel.
  • Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Shalev SA; Rappaport School of Medicine, Technion Haifa, Israel; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Spiegel R; Rappaport School of Medicine, Technion Haifa, Israel; Genetic Institute, Emek Medical Center, Afula, Israel; Pediatric Department A', Emek Medical Center, Afula, Israel. Electronic address: spiegelr@zahav.net.il.
Eur J Med Genet ; 57(11-12): 607-12, 2014.
Article em En | MEDLINE | ID: mdl-25270050
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Israel País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Israel País de publicação: Holanda