PMID: 21054355

Rubio-Cabezas O, Klupa T, Malecki MT
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4., [PubMed]
Sentences
No. Mutations Sentence Comment
307 ABCC8 p.Phe132Leu
X
ABCC8 p.Phe132Leu 21054355:307:160
status: NEW
view ABCC8 p.Phe132Leu details
 Clin Endocrinol (Oxf) 2009;71:358-62. 50 Proks P, Shimomura K, Craig TJ, Girard CA, Ashcroft FM. Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome. Login to comment