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Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
Breuss, Martin W; Nguyen, An; Song, Qiong; Nguyen, Thai; Stanley, Valentina; James, Kiely N; Musaev, Damir; Chai, Guoliang; Wirth, Sara A; Anzenberg, Paula; George, Renee D; Johansen, Anide; Ali, Shaila; Zia-Ur-Rehman, Muhammad; Sultan, Tipu; Zaki, Maha S; Gleeson, Joseph G.
Afiliação
  • Breuss MW; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Nguyen A; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Song Q; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Nguyen T; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Stanley V; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • James KN; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Musaev D; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Chai G; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Wirth SA; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Anzenberg P; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • George RD; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Johansen A; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.
  • Ali S; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • Zia-Ur-Rehman M; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address: jogleeson@ucsd.edu.
Am J Hum Genet ; 103(2): 296-304, 2018 08 02.
Article em En | MEDLINE | ID: mdl-30032983
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Retículo Endoplasmático / Mutação Limite: Adolescent / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Retículo Endoplasmático / Mutação Limite: Adolescent / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos