PMID: 18791038

Symmons O, Varadi A, Aranyi T
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Mol Biol Evol. 2008 Dec;25(12):2601-13. Epub 2008 Sep 12., [PubMed]
Sentences
No. Mutations Sentence Comment
350 ABCC6 p.Gln378*
X
ABCC6 p.Gln378* 18791038:350:8
status: NEW
view ABCC6 p.Gln378* details
 A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. Login to comment