Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to b...

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Detaylı Bibliyografya
Asıl Yazarlar: Kelsell, David P., Norgett, Elizabeth E., Unsworth, Harriet, Teh, Muy-Teck, Cullup, Thomas, Mein, Charles A., Dopping-Hepenstal, Patricia J., Dale, Beverly A., Tadini, Gianluca, Fleckman, Philip, Stephens, Karen G., Sybert, Virginia P., Mallory, Susan B., North, Bernard V., Witt, David R., Sprecher, Eli, E. M. Taylor, Aileen, Ilchyshyn, Andrew, Kennedy, Cameron T., Goodyear, Helen, Moss, Celia, Paige, David, Harper, John I., Young, Bryan D., Leigh, Irene M., Eady, Robin A. J., O’Toole, Edel A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2005
Konular:
Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199369/
https://ncbi.nlm.nih.gov/pubmed/15756637
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