ABCC8 p.His105Pro
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PMID: 26162674
[PubMed]
Zhang W et al: "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."
No.
Sentence
Comment
112
One was a novel missense mutation c.314A N C (p.His105Pro) in exon 3 inherited from his father.
X
ABCC8 p.His105Pro 26162674:112:48
status: NEW113 The A N C mutation at nucleotide 314 resulted in the substitution of histidine for proline at codon 105.
X
ABCC8 p.His105Pro 26162674:113:69
status: NEW128 One was a novel missense mutation p.His105Pro in exon 3 inherited from his father.
X
ABCC8 p.His105Pro 26162674:128:36
status: NEW