title: A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population.
authors.affiliation: R&D Center BML, Inc. Saitama 350-1101, Japan. naganom@alk.co.jp
authors.forename: M
authors.initials: M
authors.lastname: Nagano
authors.forename: T
authors.initials: T
authors.lastname: Iwasaki
authors.forename: H
authors.initials: H
authors.lastname: Hattori
authors.forename: T
authors.initials: T
authors.lastname: Egashira
mesh_terms: 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
chemical_list: D013912:Threonine; D008049:Lipase; D000409:Alanine