PMID: 21978130

Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.
Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7., [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCC8 p.Gln444His
X
ABCC8 p.Gln444His 21978130:57:141
status: NEW
view ABCC8 p.Gln444His details
 A heterozygous deletion of exon 22 (c.2560- ?_2697+?del) was identified in a proband with a previously reported recessively acting mutation (Q444H; c.1332G>T) in exon 8 of ABCC8 (10). Login to comment