Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related f...

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Autors principals: Akiyama, Masashi, Sugiyama-Nakagiri, Yoriko, Sakai, Kaori, McMillan, James R., Goto, Maki, Arita, Ken, Tsuji-Abe, Yukiko, Tabata, Nobuko, Matsuoka, Kentaro, Sasaki, Rikako, Sawamura, Daisuke, Shimizu, Hiroshi
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2005
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1159149/
https://ncbi.nlm.nih.gov/pubmed/16007253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI24834
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