A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population.
Nagano
M
M
R&D Center BML, Inc. Saitama 350-1101, Japan. naganom@alk.co.jp
Iwasaki
T
T
Hattori
H
H
Egashira
T
T
D000409:Alanine / Q000235:genetics; D001483:Base Sequence; D006801:Humans; D007564:Japan; D008049:Lipase / Q000235:genetics*; D008247:Lysosomes / Q000201:enzymology*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013912:Threonine / Q000235:genetics
D013912:Threonine; D008049:Lipase; D000409:Alanine