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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis

Lookup NU author(s): Dr Aileen Taylor

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Author(s): Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AEM, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RAJ, O'Toole EA

Publication type: Article

Journal: American Journal of Human Genetics

Year: 2005

Volume: 76

Issue: 5

Pages: 794-803

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1086/429844

DOI: 10.1086/429844


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