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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Shamseldin, Hanan E; Derar, Nada; Alzaidan, Hamad; AlHathal, Naif; Alfalah, Abdullah; Abdulwahab, Firdous; Alzaid, Tariq; Alkeraye, Salim; Alobaida, Saud A; Alkuraya, Fowzan S.
Afiliação
  • Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Derar N; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alzaidan H; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • AlHathal N; Department of Urology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alfalah A; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alzaid T; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkeraye S; Department of Dermatology, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Alobaida SA; Department of Dermatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Hum Genet ; 142(4): 477-482, 2023 Apr.
Article em En | MEDLINE | ID: mdl-36715754
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina Endopeptidases / Ictiose Limite: Animals / Humans Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina Endopeptidases / Ictiose Limite: Animals / Humans Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article