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CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek, Anne; Kaylor, Julie; Pierce, Heather; Cahr, Michelle; DeWard, Stephanie J; Schneidman-Duhovny, Dina; Alsadah, Adnan; Salem, Fadi; Schmajuk, Gabriela; Mehta, Lakshmi.
Afiliação
  • Slavotinek A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-2711, USA; Institute for Human Genetics, University of California, San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0794, USA. Electronic address: slavotia@ucsf.edu.
  • Kaylor J; Molecular Genetics Pathology Laboratory, Arkansas Children's Hospital, 1 Children's Way, Slot 820, Little Rock, AR 72202, USA.
  • Pierce H; GeneDx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Cahr M; Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA.
  • DeWard SJ; GeneDx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Schneidman-Duhovny D; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Alsadah A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-2711, USA.
  • Salem F; Department of Pathology, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA.
  • Schmajuk G; Division of Rheumatology, Department of Medicine, UCSF and the San Francisco VA Hospital, 4150 Clement St, Mailstop 111R, San Francisco, CA 94121, USA.
  • Mehta L; Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA.
Am J Hum Genet ; 96(1): 162-9, 2015 Jan 08.
Article em En | MEDLINE | ID: mdl-25557780
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alfa-Fetoproteínas / Proteínas de Transporte / Hidrocefalia / Proteínas de Membrana / Síndrome Nefrótica Limite: Child / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Alfa-Fetoproteínas / Proteínas de Transporte / Hidrocefalia / Proteínas de Membrana / Síndrome Nefrótica Limite: Child / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2015 Tipo de documento: Article