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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis
Authors:Marwa Chourabi  Mei Shan Liew  Shawn Lim  Dorra H’mida-Ben Brahim  Lobna Boussofara  Liang Dai  Pui Mun Wong  Jia Nee Foo  Badreddine Sriha  Kim Samirah Robinson  Simon Denil  John EA Common  Ons Mamaï  Youcef Ben Khalifa  Mathieu Bollen  Jianjun Liu  Mohamed Denguezli  Carine Bonnard  Bruno Reversade
Affiliation:1. Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore;2. Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia;3. L’Oréal Research & Innovation, Singapore, Singapore;4. Department of Dermatology and Venerology, Farhat Hached University Hospital, Sousse, Tunisia;5. Genome Institute of Singapore, A*STAR, Singapore, Singapore;6. Department of Pathological Anatomy and Cytology, Farhat Hached University Hospital, Sousse, Tunisia;7. Laboratory of Epithelial Biology, Institute of Medical Biology, A*STAR, Singapore, Singapore;8. Laboratory of Skin Barrier, Institute of Medical Biology, A*STAR, Singapore, Singapore;9. Helen Diller Comprehensive Cancer Center, University of California, San Francisco, California, USA;10. L’Oréal Research & Innovation, Paris, France;11. Laboratory of Biosignaling and Therapeutics, Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium
Abstract:
Keywords:ABCB6  ATP-binding cassette subfamily B member 6  DTT  dithiothreitol  DUH  dyschromatosis universalis hereditaria  ENPP1  ectonucleotide pyrophosphatase/phosphodiesterase 1  RNA-seq  RNA sequencing  SMB  somatomedin-B-like domain
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