PMID: 15868462

de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fekete C, Robert JJ, Saudubray JM, Stanley C, Bellanne-Chantelot C
Dominantly inherited hyperinsulinaemic hypoglycaemia.
J Inherit Metab Dis. 2005;28(3):267-76., [PubMed]
Sentences
No. Mutations Sentence Comment
83 ABCC8 p.Glu1506Lys
X
ABCC8 p.Glu1506Lys 15868462:83:45
status: NEW
view ABCC8 p.Glu1506Lys details
 One founder mutation in Finnish HI patients, E1506K, was found in a large pedigree with dominant inheritance. Login to comment