ABCC8 p.Gln444His
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PMID: 21978130
[PubMed]
Flanagan S et al: "Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia."
No.
Sentence
Comment
57
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).
X
ABCC8 p.Gln444His 21978130:57:141
status: NEW