TY - JOUR
T1 - Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele
AU - Barbagallo, Carlo Maria
AU - Noto, Davide
AU - Averna, Maurizio
AU - Cefalu', Angelo Baldassare
AU - Vivona, Nicoletta
AU - Vivona, Nicoletta
AU - Cefalù, Angelo B.
AU - Travali, null
AU - Emmanuele, null
AU - Rolleri, null
AU - Pisciotta, Livia
AU - Guido, null
AU - Fiore, null
AU - Emmanuele, Giovanni
AU - Noto, Davide
AU - Travali, Salvatore
AU - Bertolini, Stefano
AU - Averna, Maurizio R.
AU - Notarbartolo, Alberto
AU - Barbagallo, Carlo M.
PY - 2003
Y1 - 2003
N2 - Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
AB - Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
UR - http://hdl.handle.net/10447/185972
M3 - Article
VL - 13
SP - 93
EP - 99
JO - Nutrition, Metabolism and Cardiovascular Diseases
JF - Nutrition, Metabolism and Cardiovascular Diseases
SN - 0939-4753
ER -