Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis.
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 C.; Sybert, Virginia P.; Mallory, Susan B.; North, Bernard V.; Witt, David R.; Sprecher, Eli; Taylor, Aileen E. M.; Ilchyshyn, Andrew; Kennedy, Cameron T.; Goodyear, Helen; American Journal of Human Genetics, 2005, vol. 76, issue 5, p 794, ISSN 00029297. ISBN 00029297.

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