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Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
Meilleur, Katherine G; Zukosky, Kristen; Medne, Livija; Fequiere, Pierre; Powell-Hamilton, Nina; Winder, Thomas L; Alsaman, Abdulaziz; El-Hattab, Ayman W; Dastgir, Jahannaz; Hu, Ying; Donkervoort, Sandra; Golden, Jeffrey A; Eagle, Ralph; Finkel, Richard; Scavina, Mena; Hood, Ian C; Rorke-Adams, Lucy B; Bönnemann, Carsten G.
Afiliación
  • Meilleur KG; From the National Institute of Nursing Research, Bethesda, Maryland (KGM); National Institute of Neurological Disorders and Stroke, Bethesda, Maryland (KZ, JD, YH, SD, CGB); Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (LM, LBR-A); Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama (PF); Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware (NP-H, MS); Prevention Genetics, Marshfield, Wisconsin (TL
J Neuropathol Exp Neurol ; 73(5): 425-41, 2014 May.
Article en En | MEDLINE | ID: mdl-24709677
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: N-Acetilglucosaminiltransferasas / Distroglicanos / Distrofias Musculares / Mutación Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Neuropathol Exp Neurol Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: N-Acetilglucosaminiltransferasas / Distroglicanos / Distrofias Musculares / Mutación Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Neuropathol Exp Neurol Año: 2014 Tipo del documento: Article