PMID: 23200509

Takeichi T, Sugiura K, Matsuda K, Kono M, Akiyama M
Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.
J Dermatol Sci. 2013 Mar;69(3):259-61. doi: 10.1016/j.jdermsci.2012.11.004. Epub 2012 Nov 14., [PubMed]
Sentences
No. Mutations Sentence Comment
56 ABCA12 p.Gly1136Asp
X
ABCA12 p.Gly1136Asp 23200509:56:101
status: NEW
view ABCA12 p.Gly1136Asp details
 Interestingly, a compound heterozygote for the two mutations c.5005C>T (p.Gln1669X) and c.3407G>A (p.Gly1136Asp) was previously reported to show a typical CIE phenotype [7]. Login to comment 57 ABCA12 p.Gly1136Asp
X
ABCA12 p.Gly1136Asp 23200509:57:96
status: NEW
view ABCA12 p.Gly1136Asp details
 In this regard, we hypothesized that the difference between c.1062-3_1074del16 and c.3407G>A (p.Gly1136Asp) may determine whether the phenotype is HI or CIE. Login to comment