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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hotz, Alrun; Bourrat, Emmanuelle; Küsel, Julia; Oji, Vinzenz; Alter, Svenja; Hake, Lisanne; Korbi, Mouna; Ott, Hagen; Hausser, Ingrid; Zimmer, Andreas D; Fischer, Judith.
Afiliação
  • Hotz A; Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Bourrat E; Centre de Référence des Génodermatoses, Hôpital Saint-Louis, Paris, France.
  • Küsel J; Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Oji V; Department of Dermatology, University Hospital, Münster, Germany.
  • Alter S; Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Hake L; Department of Dermatology, University Hospital, Münster, Germany.
  • Korbi M; Department of Dermatology, Hôpital Saint-Louis, Paris, France.
  • Ott H; Division of Pediatric Dermatology and Allergology, Children's Hospital Auf der Bult, Hanover, Germany.
  • Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
  • Zimmer AD; Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
  • Fischer J; Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.
Hum Mutat ; 39(10): 1305-1313, 2018 10.
Article em En | MEDLINE | ID: mdl-30011118
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Enzimático do Citocromo P-450 / Estudos de Associação Genética / Genes Recessivos / Ictiose / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Enzimático do Citocromo P-450 / Estudos de Associação Genética / Genes Recessivos / Ictiose / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha