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Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
Caengprasath, Natarin; Nizon, Mathilde; Panchaprateep, Ratchathorn; Cogne, Benjamin; Cuinat, Silvestre; Auburt, Hélène; Jonca, Nathalie; Porntaveetus, Thantrira; Shotelersuk, Vorasuk.
Afiliação
  • Caengprasath N; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
  • Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Panchaprateep R; Division of Dermatology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Cogne B; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Cuinat S; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Auburt H; CHU Nantes, Service de Dermatologie, Nantes, France.
  • Jonca N; CHU Toulouse, Hôpital Purpan, Laboratoire de Biologie Cellulaire et Cytologie, Institut Fédératif de Biologie, Toulouse, France; Infinity, University of Toulouse, CNRS, INSERM, Université Paul Sabatier, Toulouse, France.
  • Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. Electronic address: thantrira.p@chula.ac.th.
  • Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
J Dermatol Sci ; 112(3): 166-169, 2023 Dec.
Article em En | MEDLINE | ID: mdl-37923657
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Ictiose Limite: Humans Idioma: En Revista: J Dermatol Sci Assunto da revista: DERMATOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Tailândia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Ictiose Limite: Humans Idioma: En Revista: J Dermatol Sci Assunto da revista: DERMATOLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Tailândia