PMID: 26162674

Zhang W, Liu L, Wen Z, Cheng J, Li C, Li X, Niu H, Wang F, Sheng H, Liu H
A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by (1)(8)F-DOPA-PET/CT scan.
Gene. 2015 Nov 10;572(2):222-6. doi: 10.1016/j.gene.2015.07.012. Epub 2015 Jul 8., [PubMed]
Sentences
No. Mutations Sentence Comment
112 ABCC8 p.His105Pro
X
ABCC8 p.His105Pro 26162674:112:48
status: NEW
view ABCC8 p.His105Pro details
 One was a novel missense mutation c.314A N C (p.His105Pro) in exon 3 inherited from his father. Login to comment 113 ABCC8 p.His105Pro
X
ABCC8 p.His105Pro 26162674:113:69
status: NEW
view ABCC8 p.His105Pro details
 The A N C mutation at nucleotide 314 resulted in the substitution of histidine for proline at codon 105. Login to comment 128 ABCC8 p.His105Pro
X
ABCC8 p.His105Pro 26162674:128:36
status: NEW
view ABCC8 p.His105Pro details
 One was a novel missense mutation p.His105Pro in exon 3 inherited from his father. Login to comment