TY  - GEN
AU  - Ishimura-Oka,K
AU  - Faustinella,F
AU  - Kihara,S
AU  - Smith,L C
AU  - Oka,K
AU  - Chan,L
TI  - A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia
SN  - 0002-9297
PY  - 1992///0708
KW  - Amino Acid Sequence
KW  - Arginine
KW  - Base Sequence
KW  - Chylomicrons
KW  - blood
KW  - Cloning, Molecular
KW  - Codon
KW  - genetics
KW  - DNA
KW  - Exons
KW  - Female
KW  - Humans
KW  - Hyperlipoproteinemia Type I
KW  - enzymology
KW  - Introns
KW  - Lipoprotein Lipase
KW  - deficiency
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Restriction Mapping
KW  - Tryptophan
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
ER  -