ABCC8 p.Leu580Phe
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PMID: 20685672
[PubMed]
Bellanne-Chantelot C et al: "ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism."
No.
Sentence
Comment
105
3 FH (x2), DPET htzP Flanagan et al, 2008 ABCC8 Exon 12 c.1732_1746dup15 p.Ala578_Leu582dup5 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 12 c.1738C/T p.Leu580Phe 1 DPET hmz This report ABCC8 Exon 12 c.1792C/T p.Arg598X 2 FH, DH c-htz Flanagan et al, 200817 ABCC8 Intron 13 c.1923+5G/T p.?
X
ABCC8 p.Leu580Phe 20685672:105:154
status: NEW108 3 FH (x2), DPET htzP Flanagan et al, 2008 ABCC8 Exon 12 c.1732_1746dup15 p.Ala578_Leu582dup5 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 12 c.1738C/T p.Leu580Phe 1 DPET hmz This report ABCC8 Exon 12 c.1792C/T p.Arg598X 2 FH, DH c-htz Flanagan et al, 200817 ABCC8 Intron 13 c.1923+5G/T p.?
X
ABCC8 p.Leu580Phe 20685672:108:154
status: NEW