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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; H'mida-Ben Brahim, Dorra; Boussofara, Lobna; Dai, Liang; Wong, Pui Mun; Foo, Jia Nee; Sriha, Badreddine; Robinson, Kim Samirah; Denil, Simon; Common, John Ea; Mamaï, Ons; Ben Khalifa, Youcef; Bollen, Mathieu; Liu, Jianjun; Denguezli, Mohamed; Bonnard, Carine; Saad, Ali; Reversade, Bruno.
Afiliação
  • Chourabi M; Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Liew MS; L'Oréal Research & Innovation, Singapore, Singapore.
  • Lim S; L'Oréal Research & Innovation, Singapore, Singapore.
  • H'mida-Ben Brahim D; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Boussofara L; Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Dai L; L'Oréal Research & Innovation, Singapore, Singapore.
  • Wong PM; Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Foo JN; Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Sriha B; Department of Pathological Anatomy and Cytology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Robinson KS; Laboratory of Epithelial Biology, Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Denil S; Laboratory of Epithelial Biology, Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Common JE; Laboratory of Skin Barrier, Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Mamaï O; Helen Diller Comprehensive Cancer Center, University of California, San Francisco, California, USA.
  • Ben Khalifa Y; L'Oréal Research & Innovation, Paris, France.
  • Bollen M; Laboratory of Biosignaling and Therapeutics, Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium.
  • Liu J; Genome Institute of Singapore, A*STAR, Singapore, Singapore.
  • Denguezli M; Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Bonnard C; Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore.
  • Saad A; Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
  • Reversade B; Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore. Electronic address: bruno@reversade.com.
J Invest Dermatol ; 138(2): 291-300, 2018 02.
Article em En | MEDLINE | ID: mdl-28964717
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Hipopigmentação / Ceratodermia Palmar e Plantar / Diester Fosfórico Hidrolases / Melaninas / Melanócitos Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Hipopigmentação / Ceratodermia Palmar e Plantar / Diester Fosfórico Hidrolases / Melaninas / Melanócitos Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article