PMID: 21912073

Yorifuji T, Hosokawa Y, Fujimaru R, Kawakita R, Doi H, Matsumoto T, Nishibori H, Masue M
Lasting 18F-DOPA PET uptake after clinical remission of the focal form of congenital hyperinsulinism.
Horm Res Paediatr. 2011;76(4):286-90. Epub 2011 Sep 7., [PubMed]
Sentences
No. Mutations Sentence Comment
1 ABCC8 p.Asp1396Tyr
X
ABCC8 p.Asp1396Tyr 21912073:1:96
status: NEW
view ABCC8 p.Asp1396Tyr details
 Results: Mutational analysis revealed a paternally inherited monoallelic mutation, c.4186G1T (p.D1396Y), in the ABCC8 gene, and an 18 F-DOPA PET scan revealed focal uptake in the body of the pancreas. Login to comment 29 ABCC8 p.Asp1396Tyr
X
ABCC8 p.Asp1396Tyr 21912073:29:194
status: NEW
view ABCC8 p.Asp1396Tyr details
 A diagnosis of congenital hyperinsulinism was made, and mutational analysis using DNA extracted from peripheral blood leukocytes revealed a pa- ternallyinheritedheterozygousmutation,c.4186G1T(p.D1396Y), in the ABCC8 gene. Login to comment