TY - JOUR
T1 - APOE1 mutation in a patient with type III hyperlipoproteinaemia
T2 - detailed genetic analysis required
AU - Visser, M. E.
AU - Dallinga-Thie, G. M.
AU - Pinto-Sietsma, S. J.
AU - Defesche, J. C.
AU - Stroes, E. S.
AU - van der Valk, P. R.
PY - 2012/8/1
Y1 - 2012/8/1
N2 - We present the case of a patient with clinical features of familial dysbetalipoproteinaemia (FD) including high levels of total cholesterol, hypertriglyceridaemia and the presence of palmar xanthomas. Whereas genotype analysis identified the APOE3E3 isoform, sequence analysis revealed the presence of one APOE1 allele due to a mutation, p.Lys164Glu, which leads to loss of function of apolipoprotein E (ApoE), a rare cause of dominant FD.
AB - We present the case of a patient with clinical features of familial dysbetalipoproteinaemia (FD) including high levels of total cholesterol, hypertriglyceridaemia and the presence of palmar xanthomas. Whereas genotype analysis identified the APOE3E3 isoform, sequence analysis revealed the presence of one APOE1 allele due to a mutation, p.Lys164Glu, which leads to loss of function of apolipoprotein E (ApoE), a rare cause of dominant FD.
UR - http://www.scopus.com/inward/record.url?scp=84989771111&partnerID=8YFLogxK
M3 - Article
C2 - 22859420
AN - SCOPUS:84989771111
SN - 0300-2977
VL - 70
SP - 278
EP - 280
JO - The Netherlands journal of medicine
JF - The Netherlands journal of medicine
IS - 6
ER -