Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene.
Hirota
S
S
Okazaki
T
T
Kitamura
Y
Y
O'Brien
P
P
Kapusta
L
L
Dardick
I
I
D018952:Antigens, CD34 / Q000378:metabolism; D001342:Autonomic Nervous System Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004273:DNA, Neoplasm / Q000032:analysis; D004064:Digestive System / Q000294:innervation / Q000473:pathology*; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D006965:Hyperplasia; D007150:Immunohistochemistry; D009197:Myenteric Plexus / Q000378:metabolism / Q000473:pathology; D010524:Peripheral Nervous System Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism
D018952:Antigens, CD34; D004273:DNA, Neoplasm; D019009:Proto-Oncogene Proteins c-kit