PMID: 16882742

Giurgea I, Sempoux C, Bellanne-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fekete C, de Lonlay P
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
J Clin Endocrinol Metab. 2006 Oct;91(10):4118-23. Epub 2006 Aug 1., [PubMed]
Sentences
No. Mutations Sentence Comment
83 ABCC8 p.Arg598*
X
ABCC8 p.Arg598* 16882742:83:156
status: NEW
view ABCC8 p.Arg598* details
ABCC8 p.Pro1413Leu
X
ABCC8 p.Pro1413Leu 16882742:83:174
status: NEW
view ABCC8 p.Pro1413Leu details
 In addition, all three patients had a heterozygous, paternally inherited SUR1 (ABCC8) gene mutation (patient 1, c.3988 ϩ 2_ϩ15del14; patient 2, R598X; patient 3, P1413L). Login to comment