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Title : Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis - Ma_1992_J.Biol.Chem_267_1918 |
Author(s) : Ma YH , Bruin T , Tuzgol S , Wilson BI , Roederer G , Liu MS , Davignon J , Kastelein JJ , Brunzell JD , Hayden MR |
Ref : Journal of Biological Chemistry , 267 :1918 , 1992 |
Abstract : Ma_1992_J.Biol.Chem_267_1918 |
ESTHER : Ma_1992_J.Biol.Chem_267_1918 |
PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
PubMedID: 1730727 |
Gene_locus related to this paper: human-LPL |
Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649 |
Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR |
Ref : Genomics , 13 :649 , 1992 |
Abstract : Ma_1992_Genomics_13_649 |
ESTHER : Ma_1992_Genomics_13_649 |
PubMedSearch : Ma_1992_Genomics_13_649 |
PubMedID: 1639392 |
Gene_locus related to this paper: human-LPL |