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ABCA12

Pathology

- germline mutations in

  • lamellar ichthyosis type 2 (MIM.601277)
  • harlequin type ichtyosis congenita

See also

- ABCAs

References

- Uitto J. The gene family of ABC transporters - novel mutations, new phenotypes. Trends Mol Med. 2005 Aug;11(8):341-3. PMID: #15996518#