Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.
Treepongkaruna
Suporn
S
Division of Gastroenterology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Chongviriyaphan
Nalinee
N
Suthutvoravut
Umaporn
U
Charoenpipop
Dussadee
D
Choubtum
Lulin
L
Wattanasirichaigoon
Duangrurdee
D
D000818:Animals; D002914:Chylomicrons; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007223:Infant; D008074:Lipoproteins / Q000097:blood; D008297:Male; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics*; D020125:Mutation, Missense; D014280:Triglycerides / Q000097:blood
D002914:Chylomicrons; D008074:Lipoproteins; D014280:Triglycerides; C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins