PMID: 18305351

Chassaing N, Touitou I, Cattan D, Calvas P
ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.
J Genet. 2007 Dec;86(3):293-5., [PubMed]
Sentences
No. Mutations Sentence Comment
13 ABCC6 p.Gly1042Ser
X
ABCC6 p.Gly1042Ser 18305351:13:125
status: NEW
view ABCC6 p.Gly1042Ser details
 This patient, born of a healthy consanguineous parents, was a homozygote carrier of both p.Met694Ile mutation in MEFV, and p.Gly1042Ser in ABCC6. Login to comment