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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano, Maria-Teresa; Tafazzoli, Aylar; Mattern, Maximilian; Sivalingam, Sugirthan; Wolf, Sabrina; Rupp, Alexander; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Ellwanger, Jürgen; Gambon, Reto; Baumer, Alessandra; Kohlschmidt, Nicolai; Metze, Dieter; Holdenrieder, Stefan; Paus, Ralf; Lütjohann, Dieter; Frank, Jorge; Geyer, Matthias; Bertolini, Marta; Kokordelis, Pavlos; Betz, Regina C.
Afiliação
  • Romano MT; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany.
  • Tafazzoli A; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany.
  • Mattern M; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany.
  • Sivalingam S; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany.
  • Wolf S; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany.
  • Rupp A; Institute of Laboratory Medicine, German Heart Center, Technical University Munich, 80636 Munich, Germany.
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany.
  • Ellwanger J; Dermatological Practice, 80333 München, Germany.
  • Gambon R; Pediatric Practice Feldstrasse, 7430 Thusis, Switzerland.
  • Baumer A; Institute for Genetic Medicine, University of Zürich, 8952 Schlieren, Switzerland.
  • Kohlschmidt N; Institute of Clinical Genetics, 53111 Bonn, Germany.
  • Metze D; Department of Dermatology, University of Münster, 48149 Münster, Germany.
  • Holdenrieder S; Institute of Laboratory Medicine, German Heart Center, Technical University Munich, 80636 Munich, Germany.
  • Paus R; Department of Dermatology & Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Centre for Dermatology Research, University of Manchester, Manchester, UK.
  • Lütjohann D; Institute for Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127 Bonn, Germany.
  • Frank J; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, 37075 Göttingen, Germany.
  • Geyer M; Institute of Innate Immunity, University of Bonn, 53175 Bonn, Germany.
  • Bertolini M; Department of Dermatology, University of Münster, 48149 Münster, Germany; Monasterium Laboratory - Skin and Hair Research Solutions GmbH, 48149 Münster, Germany.
  • Kokordelis P; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany.
  • Betz RC; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, 53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
Am J Hum Genet ; 103(5): 777-785, 2018 11 01.
Article em En | MEDLINE | ID: mdl-30401459
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transferases Intramoleculares / Genes Recessivos / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transferases Intramoleculares / Genes Recessivos / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article