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Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.
Mohamad, Janan; Sarig, Ofer; Malki, Liron; Rabinowitz, Tom; Assaf, Sari; Malovitski, Kiril; Shkury, Eden; Mayer, Talia; Vodo, Dan; Peled, Alon; Daniely, Daniel; Pavlovsky, Mor; Shomron, Noam; Samuelov, Liat; Sprecher, Eli.
Affiliation
  • Mohamad J; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Sarig O; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Malki L; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Rabinowitz T; Department of Cell and Developmental Biology, Tel Aviv University, Ramat Aviv, Israel.
  • Assaf S; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Malovitski K; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Shkury E; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Mayer T; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Vodo D; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Peled A; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Daniely D; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Pavlovsky M; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Shomron N; Department of Cell and Developmental Biology, Tel Aviv University, Ramat Aviv, Israel.
  • Samuelov L; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Sprecher E; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: elisp@tlvmc.gov.il.
J Invest Dermatol ; 140(11): 2178-2187, 2020 11.
Article de En | MEDLINE | ID: mdl-32247861
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Serpines / Kératose palmoplantaire / Mutation Type d'étude: Etiology_studies Limites: Child / Child, preschool / Female / Humans Langue: En Journal: J Invest Dermatol Année: 2020 Type de document: Article Pays d'affiliation: Israël
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Serpines / Kératose palmoplantaire / Mutation Type d'étude: Etiology_studies Limites: Child / Child, preschool / Female / Humans Langue: En Journal: J Invest Dermatol Année: 2020 Type de document: Article Pays d'affiliation: Israël