Compound heterozygosity of novel missense mutations (Ser45 --> Gly, Cys278 --> Arg) in the lipoprotein lipase gene in a newborn Korean infant.
Lee
JangHoon
J
Ko
KwangMin
K
Ryu
SookWon
S
Lee
JungHwa
J
Lee
KwangChul
K
Son
ChangSung
C
Lee
JooWon
J
D001120:Arginine / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007723:Korea; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012694:Serine / Q000235:genetics*
D012694:Serine; D001120:Arginine; D008071:Lipoprotein Lipase; D003545:Cysteine; D005998:Glycine