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A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.
Jan, Hamadia; Wasif, Naveed; Naqvi, Syed Kamran-Ul-Hassan; Ullah, Imran; Ahmad, Wasim.
Afiliação
  • Jan H; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Wasif N; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
  • Naqvi SK; Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany.
  • Ullah I; Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
Congenit Anom (Kyoto) ; 63(4): 127-128, 2023 07.
Article em En | MEDLINE | ID: mdl-37128664
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ictiose Lamelar Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ictiose Lamelar Idioma: En Ano de publicação: 2023 Tipo de documento: Article