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Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He, Yinghong; Maier, Kristin; Leppert, Juna; Hausser, Ingrid; Schwieger-Briel, Agnes; Weibel, Lisa; Theiler, Martin; Kiritsi, Dimitra; Busch, Hauke; Boerries, Melanie; Hannula-Jouppi, Katariina; Heikkilä, Hannele; Tasanen, Kaisa; Castiglia, Daniele; Zambruno, Giovanna; Has, Cristina.
Afiliação
  • He Y; Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany.
  • Maier K; Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany.
  • Leppert J; Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany.
  • Hausser I; Department of Pathology, University of Heidelberg, Heidelberg 69120, Germany.
  • Schwieger-Briel A; Department of Paediatric Dermatology, University Children's Hospital Zurich, Zurich 8091, Switzerland; Department of Dermatology, University Hospital Zurich, Zurich 8091, Switzerland.
  • Weibel L; Department of Paediatric Dermatology, University Children's Hospital Zurich, Zurich 8091, Switzerland; Department of Dermatology, University Hospital Zurich, Zurich 8091, Switzerland.
  • Theiler M; Department of Paediatric Dermatology, University Children's Hospital Zurich, Zurich 8091, Switzerland; Department of Dermatology, University Hospital Zurich, Zurich 8091, Switzerland.
  • Kiritsi D; Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany.
  • Busch H; Systems Biology of the Cellular Microenvironment Group, Institute of Molecular Medicine and Cell Research, Albert-Ludwigs-University Freiburg, Freiburg 79104, Germany; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Comprehensive Cancer Center Freibu
  • Boerries M; Systems Biology of the Cellular Microenvironment Group, Institute of Molecular Medicine and Cell Research, Albert-Ludwigs-University Freiburg, Freiburg 79104, Germany; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Comprehensive Cancer Center Freibu
  • Hannula-Jouppi K; Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki 00014, Finland; Folkhälsan Institute of Genetics, University of Helsinki, Helsinki 00014, Finland.
  • Heikkilä H; Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki 00014, Finland.
  • Tasanen K; Department of Dermatology, PEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu 90014, Finland.
  • Castiglia D; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00167, Italy.
  • Zambruno G; Genetic and Rare Diseases Research Area, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00165, Italy.
  • Has C; Department of Dermatology, University Medical Center Freiburg, Freiburg 79104, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
Am J Hum Genet ; 99(6): 1395-1404, 2016 Dec 01.
Article em En | MEDLINE | ID: mdl-27889062
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Pele / Anormalidades da Pele / Códon de Iniciação / Alelos / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Pele / Anormalidades da Pele / Códon de Iniciação / Alelos / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article