PMID: 23954554

Akiyama M
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
Biochim Biophys Acta. 2014 Mar;1841(3):435-40. doi: 10.1016/j.bbalip.2013.08.009. Epub 2013 Aug 15., [PubMed]
Sentences
No. Mutations Sentence Comment
83 ABCA12 p.Ser387Asn
X
ABCA12 p.Ser387Asn 23954554:83:117
status: NEW
view ABCA12 p.Ser387Asn details
 One patient was homozygous for the splice-site mutation c.3295-2ANG [4], and another was compound heterozygous for p.Ser387Asn and p.Thr1387del [38]. Login to comment 84 ABCA12 p.Ile1494Thr
X
ABCA12 p.Ile1494Thr 23954554:84:34
status: NEW
view ABCA12 p.Ile1494Thr details
 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient [39]. Login to comment