PMID- 10658347
OWN - NLM
STAT- MEDLINE
DCOM- 20000303
LR  - 20200103
IS  - 0204-8043 (Print)
IS  - 0204-8043 (Linking)
VI  - 40
IP  - 3
DP  - 1998
TI  - LDL-receptor gene polymorphism in patients with early-onset coronary artery 
      disease.
PG  - 5-10
AB  - Simultaneous amplification of the promoter and 17 (out of 18) exons of the LDL-R 
      gene (along with flanking intron sequences) was performed in 36 patients with 
      hypercholesterolemia and early-onset coronary artery disease. The identification 
      of the PCR-products on denaturing gradient gel electrophoresis (DGGE) revealed 34 
      cases of heteroduplexes in 24 patients. The heteroduplexes in exons 12, 10, and 2 
      (31%, 28% and 22%, respectively) probably reflect common polymorphism of LDL-R 
      gene, while heteroduplexes in exons 6, 4 and 13 are less frequent (5.6%, 5.6%, 
      and 2.8%, respectively). Significant association between the genetic variants, or 
      polymorphism with clinical manifestations, could not be established.
FAU - Atanassov, N
AU  - Atanassov N
AD  - Department of Clinical Laboratory, Higher Medical Institute, Plovdiv, Bulgaria.
FAU - Markova, V
AU  - Markova V
FAU - Boev, T
AU  - Boev T
FAU - Keremidtchieva, T
AU  - Keremidtchieva T
FAU - Vladimirova, L
AU  - Vladimirova L
FAU - Djurdjev, A
AU  - Djurdjev A
LA  - eng
PT  - Journal Article
PL  - Bulgaria
TA  - Folia Med (Plovdiv)
JT  - Folia medica
JID - 2984761R
RN  - 0 (Nucleic Acid Heteroduplexes)
RN  - 0 (Receptors, LDL)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Coronary Disease/complications/*genetics
MH  - Exons
MH  - Humans
MH  - Hypercholesterolemia/complications/genetics
MH  - Nucleic Acid Heteroduplexes/genetics
MH  - Polymorphism, Genetic
MH  - Promoter Regions, Genetic
MH  - Receptors, LDL/*genetics
EDAT- 2000/02/05 09:00
MHDA- 2000/03/11 09:00
CRDT- 2000/02/05 09:00
PHST- 2000/02/05 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 2000/02/05 09:00 [entrez]
PST - ppublish
SO  - Folia Med (Plovdiv). 1998;40(3):5-10.