Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia:

1999 ◽  
Vol 285 (1-2) ◽  
pp. 143-154 ◽  
Author(s):  
Atsuko Takagi ◽  
Yasuyuki Ikeda ◽  
Kazuhiro Tachi ◽  
Tooru Shinozuka ◽  
Akira Yamamoto
Keyword(s):  
Lipoprotein Lipase ◽  
Compound Heterozygous ◽  
Lipase Gene ◽  
Lipoprotein Lipase Gene ◽  
Compound Heterozygous Mutations

scholarly journals A missense (Asp250—-Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.

1992 ◽  
Vol 33 (5) ◽  
pp. 745-754
Author(s):  
K Ishimura-Oka ◽  
CF Semenkovich ◽  
F Faustinella ◽  
IJ Goldberg ◽  
N Shachter ◽  
...  
Keyword(s):  
Lipoprotein Lipase ◽  
Lipase Gene ◽  
Lipoprotein Lipase Gene ◽  
Lipoprotein Lipase Deficiency
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