PMID: 14715863

Stanley CA, Thornton PS, Ganguly A, MacMullen C, Underwood P, Bhatia P, Steinkrauss L, Wanner L, Kaye R, Ruchelli E, Suchi M, Adzick NS
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.
J Clin Endocrinol Metab. 2004 Jan;89(1):288-96., [PubMed]
Sentences
No. Mutations Sentence Comment
205 ABCC8 p.Asn188Ser
X
ABCC8 p.Asn188Ser 14715863:205:84
status: NEW
view ABCC8 p.Asn188Ser details
ABCC8 p.Arg74Trp
X
ABCC8 p.Arg74Trp 14715863:205:45
status: NEW
view ABCC8 p.Arg74Trp details
ABCC8 p.Arg598*
X
ABCC8 p.Arg598* 14715863:205:185
status: NEW
view ABCC8 p.Arg598* details
ABCC8 p.Cys717*
X
ABCC8 p.Cys717* 14715863:205:239
status: NEW
view ABCC8 p.Cys717* details
 of alleles SUR1 region Exon 1 F27Sa 1 Exon 2 R74W 2 Exon 4 536-9 del atgga 1 Exon 4 N188S 1 Exon 5 ins 6a.a. 1 Exon 10 R495Qa 1 Exon 10 E501Ka 1 Intron 10 g 1630ϩ1 aa,b 1 Exon 12 R598X 1 Exon 13 1874 del c 1 Exon 15 F686Sa 1 Exon 16 C717X 1 Intron 24 c 2924-9 aa 1 Exon 24 2835-8 del agaga 2 Exon 24 Q954X 1 Exon 25 R999X 2 Exon 29 3576 del g 1 Exon 29 R1215Q 2 Exon 29 R1215Wa,b 2 Intron 32 g 3992-9 a 4 Exon 33 L1350Qa 1 Exon 33 G1401Ra 1 Exon 34 S1387F 1 Exon 34 delF1388 1 Exon 36 D1472Ha 1 Exon 36 D1472Na 1 Kir6.2 region A102Na 1 G134A 1 R136La 1 P266L 1 R301Ha 1 a Novel mutations. Login to comment