| 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 : |
| 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 : |
| PubMedSearch : Ma_1992_Genomics_13_649 |
| PubMedID: 1639392 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification of the molecular defects underlying chylomicronemia in the majority of 75 separate probands with LPL deficiency. (Abstract) - |
| Author(s) : Henderson H , Ma Y , Kastelein J , Roederer G , Julien P , Brunzell J , Hayden MR |
| Ref : Clin Res , 39 :336A , 1991 |
| PubMedID: |
| Title : A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians - Ma_1991_N.Engl.J.Med_324_1761 |
| Author(s) : Ma Y , Henderson HE , Murthy V , Roederer G , Monsalve MV , Clarke LA , Normand T , Julien P , Gagne C , Lambert M , et al. |
| Ref : N Engl J Med , 324 :1761 , 1991 |
| Abstract : |
| PubMedSearch : Ma_1991_N.Engl.J.Med_324_1761 |
| PubMedID: 2038366 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries - Monsalve_1990_J.Clin.Invest_86_728 |
| Author(s) : Monsalve MV , Henderson H , Roederer G , Julien P , Deeb S , Kastelein JJ , Peritz L , Devlin R , Bruin T , Murthy MR , et al. |
| Ref : J Clinical Investigation , 86 :728 , 1990 |
| Abstract : |
| PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728 |
| PubMedID: 1975597 |
| Gene_locus related to this paper: human-LPL |