8
Views
0
CrossRef citations to date
0
Altmetric
Original Article

Applications of PCR in the Diseases of Genetic Isolates

, &
Pages 191-194 | Published online: 08 Jul 2009

References

  • Reiss J, Cooper D N. Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet 1990; 85: 1–8
  • Norio R, Nevanlinna H R., Perheentupa J. Hereditary diseases in Finland: rare flora in rare soil. Ann Clin Res 1973; 5: 109–41
  • Aula P, Autio S, Raivio K O., Rapola J. Aspartylglucosaminuria in genetic errors of glycoprotein metabolism, P Durand, J S. O'Brien. Springer Verlag, Berlin 1982; 123–52
  • Ikonen E, Baumann M, Grön K, et al. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 1991; 10: 51–8
  • Syvänen A C., Aalto-Setälä K, Harju L, Kontula K, Söderlund H. A primer guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 1990; 8: 684–92
  • Ikonen E, Enomaa N, Ulmanen I, Peltonen L. In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. Genomics 1991; 11: 206–11
  • Ikonen E, Aula P, Grön K, et al. Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 1991; 88: 11222–6
  • Ikonen E, Ulmanen I, Peltonen L. Deletion of the 3' untranslated region of aspartylglucosaminidase mRN A results in a lysosomal accumulation disease. J Biol Chem 1992, (in press)
  • Syvänen A C., Ikonen E, Manninen T, et al. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland. Genomics 1992; 12: 590–5
  • Jalanko A, Kere J, Savilahti E, et al. Screening for defined cystic fibrosis mutations by solid-phase minisequencing. Clin Chem 1992; 38: 39–43
  • Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann Clin Res 1969; 1: 314–24
  • Maury C PJ, Alli K, Baumann M. Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsolin. FEBS Lett 1990; 260: 85–7
  • Hiltunen T, Kiuru S, Hongell V, Heliö T, Palo J, Peltonen L. Finnish type of familial amyloidosis: Cosegregation of Asp 187 Asn mutation of gelsolin in three large families. Am J Hum Genet 1991; 49: 522–8
  • Paunio T, Kiuru S, Hongell V, et al. Solid-phase minisequencing test reveals Asp187 Asn mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. Genomics 1992, (in press)
  • McKusick V A. Mendelian inheritance in man, 9th ed. The Johns Hopkins University Press, Baltimore 1990

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.