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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Zaki, Maha S; Issa, Mahmoud Y; Thomas, Manal M; Elbendary, Hasnaa M; Rafat, Karima; Al Menabawy, Nihal M; Selim, Laila A; Ismail, Samira; Abdel-Salam, Ghada M; Gleeson, Joseph G.
Afiliação
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.
  • Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.
  • Thomas MM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.
  • Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.
  • Rafat K; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.
  • Al Menabawy NM; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt.
  • Selim LA; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt.
  • Ismail S; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.
  • Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, El-Tahrir Street, Dokki, Cairo, 12311, Egypt.
  • Gleeson JG; Department of Neurosciences, University of California and Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, La Jolla, CA, 92093, USA.
Neurol Sci ; 42(7): 2737-2745, 2021 Jul.
Article em En | MEDLINE | ID: mdl-33123925
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Zellweger / Transtornos Peroxissômicos / Proteínas de Membrana Limite: Child / Humans / Newborn País/Região como assunto: Africa Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Egito
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Zellweger / Transtornos Peroxissômicos / Proteínas de Membrana Limite: Child / Humans / Newborn País/Região como assunto: Africa Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Egito