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

Author:

Vuorio AF,Paulin L,Saltevo J,Kontula K

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference8 articles.

1. Application of natural and amplification created restriction sites for the diagnosis of PKU mutations;Eiken;Nucleic Acids Research,1991

2. Detection of minority point mutations by modified PCR technique: A new approach for a sensitive tumor-progression markers;Haliassos;Nucleic Acids Research,1989

3. Reading bits of genetic information: methods for single nucleotide analysis;Landegren;Genome Research,1998

4. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823->Asp and Leu380->His) and eight rare mutations of the LDL receptor gene;Koivisto;American Journal of Human Genetics,1995

5. A novel point mutation (Pro84->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia;Vuorio;Clinical Genetics,1997

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