PMID: 22763786

Ratajewski M, de Boussac H, Sachrajda I, Bacquet C, Kovacs T, Varadi A, Pulaski L, Aranyi T
ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene.
J Invest Dermatol. 2012 Dec;132(12):2709-17. doi: 10.1038/jid.2012.218. Epub 2012 Jul 5., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 22763786:20:22
status: NEW
view ABCC6 p.Arg1141* details
 Stop codon mutation p.R1141X represents 25% of all observed mutations. Login to comment