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Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
van den Bogaard, Ellen H J; van Geel, Michel; van Vlijmen-Willems, Ivonne M J J; Jansen, Patrick A M; Peppelman, Malou; van Erp, Piet E J; Atalay, Selma; Venselaar, Hanka; Simon, Marleen E H; Joosten, Marieke; Schalkwijk, Joost; Zeeuwen, Patrick L J M.
Afiliación
  • van den Bogaard EHJ; Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • van Geel M; Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • van Vlijmen-Willems IMJJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Jansen PAM; GROW Research Institute for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Peppelman M; Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • van Erp PEJ; Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Atalay S; Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Venselaar H; Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Simon MEH; Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.
  • Joosten M; Center for Molecular and Biomolecular Informatics, RIMLS, Radboudumc, Nijmegen, The Netherlands.
  • Schalkwijk J; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Zeeuwen PLJM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Genet Med ; 21(7): 1559-1567, 2019 07.
Article en En | MEDLINE | ID: mdl-30425301
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Inhibidores de Cisteína Proteinasa / Alopecia / Cistatina M Tipo de estudio: Etiology_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Inhibidores de Cisteína Proteinasa / Alopecia / Cistatina M Tipo de estudio: Etiology_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos