Title : Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

Pub. Date : 2003 Sep

PMID : 12941782






3 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Recessive mutations of sulfonylurea receptor 1 (SUR1) and potassium inward rectifier 6.2 (Kir6.2), the two adjacent genes on chromosome 11p that comprise the beta-cell plasma membrane ATP-sensitive K(+) (K(ATP)) channels, are responsible for the most common form of congenital hyperinsulinism in children. Adenosine Triphosphate ATP binding cassette subfamily C member 8 Homo sapiens
2 Recessive mutations of sulfonylurea receptor 1 (SUR1) and potassium inward rectifier 6.2 (Kir6.2), the two adjacent genes on chromosome 11p that comprise the beta-cell plasma membrane ATP-sensitive K(+) (K(ATP)) channels, are responsible for the most common form of congenital hyperinsulinism in children. Adenosine Triphosphate ATP binding cassette subfamily C member 8 Homo sapiens
3 This AIR pattern suggested a K(ATP) channel defect because it resembled that seen in children with recessive hyperinsulinism due to two common SUR1 mutations, g3992-9a and delPhe1388. Adenosine Triphosphate ATP binding cassette subfamily C member 8 Homo sapiens