Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses: A case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia

Molecular and Cellular Probes

Volumn 13, Issue 6, 1999, Pages 421-424

  Vuorio, A F ^a   Paulin, L ^b   Saltevo, J ^c   Kontula, K ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c Central Finland Central Hospital   (Finland)

Author keywords

Familial hypercholesterolemia; Misdiagnosis; Polymerase chain reaction; Primer introduced restriction analysis; Single nucleotide polymorphism

Indexed keywords

ARTICLE; BASE MISPAIRING; DIAGNOSTIC ERROR; FAMILIAL HYPERCHOLESTEROLEMIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0033399621     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1999.0269     Document Type: Article

References (8)

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