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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.

Hum Mol Genet 12:2369-78 (2003)
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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 AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Am J Hum Genet 76:794-803 (2005)
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