PMID: 15319316

Johnson SC, Marshall DJ, Harms G, Miller CM, Sherrill CB, Beaty EL, Lederer SA, Roesch EB, Madsen G, Hoffman GL, Laessig RH, Kopish GJ, Baker MW, Benner SA, Farrell PM, Prudent JR
Multiplexed genetic analysis using an expanded genetic alphabet.
Clin Chem. 2004 Nov;50(11):2019-27. Epub 2004 Aug 19., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 15319316:45:122
status: NEW
view ABCC7 p.Ile148Thr details
 3199del6 was added because several lines of evidence indicate that 3199del6 is a disease-causing mutation and may replace I148T (20). Login to comment