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X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
Curiel, Julian; Steinberg, Steven Jeffrey; Bright, Sarah; Snowden, Ann; Moser, Ann B; Eichler, Florian; Dubbs, Holly A; Hacia, Joseph G; Ely, John J; Bezner, Jocelyn; Gean, Alisa; Vanderver, Adeline.
Afiliação
  • Curiel J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: jcuriel@wakehealth.edu.
  • Steinberg SJ; DNA Diagnostic Laboratory, Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States. Electronic address: steven.steinberg@aruplab.com.
  • Bright S; DNA Diagnostic Laboratory, Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States. Electronic address: skight1@jhmi.edu.
  • Snowden A; The Hugo W. Moser Research Institute, Kennedy Krieger Institute Inc, Baltimore, MD, United States. Electronic address: Snowden@kennedykrieger.org.
  • Moser AB; The Hugo W. Moser Research Institute, Kennedy Krieger Institute Inc, Baltimore, MD, United States. Electronic address: mosera@kennedykrieger.org.
  • Eichler F; Center for Rare Neurological Diseases, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States. Electronic address: feichler@partners.org.
  • Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: dubbsh@email.chop.edu.
  • Hacia JG; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, LA, California, United States. Electronic address: hacia@usc.eduv.
  • Ely JJ; MAEBIOS, Alamogordo, NM, United States.
  • Bezner J; Save the Chimps, Fort Pierce, FL, United States. Electronic address: jbezner@savethechimps.org.
  • Gean A; Department of Neuroradiology, University of California, San Francisco, Zuckerberg San Francisco General Hospital and Trauma Center, San Francisco, CA, United States. Electronic address: alisa.gean@ucsf.edu.
  • Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: vandervera@email.chop.edu.
Mol Genet Metab ; 122(3): 130-133, 2017 11.
Article em En | MEDLINE | ID: mdl-28919002

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Pan troglodytes / Adrenoleucodistrofia / Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Pan troglodytes / Adrenoleucodistrofia / Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos