Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency

Journal of Clinical Investigation

Volumn 88, Issue 6, 1991, Pages 1856-1864

  Gotoda, Takanari ^a   Yamada, Nobuhiro ^a   Kawamura, Masako ^a   Kozaki, Koichi ^a   Mori, Natsuko ^a   Ishibashi, Shun ^a   Shimano, Hitoshi ^a   Takaku, Fumimaro ^a   Yazaki, Yoshio ^a   Furuichi, Yasuhiro ^b   Murase, Toshio ^c  

^a UNIVERSITY OF TOKYO   (Japan)

^b NIPPON ROCHE RESEARCH CENTER   (Japan)

^c TORANOMON HOSPITAL   (Japan)

Author keywords

Chylomicron; Genetic disease; Haplotype; Mutagenesis; Point mutation

Indexed keywords

LIPOPROTEIN LIPASE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME DEFICIENCY; FAMILIAL DISEASE; FEMALE; GENETIC DISORDER; HUMAN; MALE; MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD, PRESCHOOL; HAPLOTYPES; HUMAN; HYPERTRIGLYCERIDEMIA; INFANT; INFANT, NEWBORN; LIPOPROTEIN LIPASE; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0026344120     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI115507     Document Type: Article

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