PMID: 20876623

Siikala E, Rautemaa R, Richardson M, Saxen H, Bowyer P, Sanglard D
Persistent Candida albicans colonization and molecular mechanisms of azole resistance in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients.
J Antimicrob Chemother. 2010 Dec;65(12):2505-13. Epub 2010 Sep 28., [PubMed]
Sentences
No. Mutations Sentence Comment
76 ABCB1 p.Arg673Gln
X
ABCB1 p.Arg673Gln 20876623:76:40
status: NEW
view ABCB1 p.Arg673Gln details
a Mutations A736T, N977D, N972S, E461K, R673Q and H741Y found in TAC1 alleles have previously been described as gain-of-function (GOF) mutations. Login to comment
130 ABCB1 p.Arg673Gln
X
ABCB1 p.Arg673Gln 20876623:130:56
status: NEW
view ABCB1 p.Arg673Gln details
Twelve different mutations (A736T, N977D, N972S, E461K, R673Q, H741Y, S108N, P276L, S290C, F973S, N740S and N740D) were found in total. Login to comment