Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa
| Autor: | Maria C. Bolling, K. Wertheim‐Tysarowska, P. C. van den Akker, G. Pohla-Gubo, M. El Hachem, Giovanna Zambruno, S. Büchel, Cristina Has, R. Hiremagalore, María José Escámez, Ignacia Fuentes, A. Charlesworth, Lin Liu |
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| Přispěvatelé: | Translational Immunology Groningen (TRIGR) |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
CHILEAN PATIENTS Genetic counseling Dermatology Immunofluorescence Microscopy INTERSTITIAL LUNG-DISEASE MOLECULAR DIAGNOSIS Skin fragility SEQUENCE VARIANTS Medicine Humans PRENATAL-DIAGNOSIS Biología y Biomedicina CAUSES KINDLER SYNDROME Ingeniería Mecánica GLYCINE SUBSTITUTION TRANSMISSION ELECTRON-MICROSCOPY business.industry Clinical Laboratory Techniques Disease classification medicine.disease IMMUNOFLUORESCENCE MICROSCOPY Clinical Practice EXTRACUTANEOUS MANIFESTATIONS Epidermolysis bullosa business Genetic diagnosis Epidermolysis Bullosa |
| Zdroj: | BRITISH JOURNAL OF DERMATOLOGY, 182(3), 574-592. Wiley |
| ISSN: | 1365-2133 0007-0963 |
| Popis: | This guideline were initiated by DEBRA International; financial support was provided by DEBRA Austria. The generous assistance of Rebecca Bodan, Lisa Brains, Sharon Cassidy and Kelsey Townsend-Miller is gratefully acknowledged in providing patient or lay input into this guideline. The authors acknowledge the guidance of Kattya Mayre-Chilton (DEDRA International). Johann Bauer (Paracelsus University and EB House, Salzburg, Austria), Christine Bodemer (Hôpital Universitaire Necker, Paris, France), Judith Fischer (Institute of Human Genetics, University of Freiburg, Germany), Jemima Mellerio (St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.), Francis Palisson (Universidad del Desarrollo and DEBRA, Chile), Eli Sprecher (Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel) and Jouni Uitto, Leila Youssefian and Hassan Vahidnezhad (all from the Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.) are acknowledged as reviewers. |
| Databáze: | OpenAIRE |
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