P F Koppens

Summary

Affiliation: Erasmus University
Country: The Netherlands

Publications

  1. ncbi request reprint CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands
    P F Koppens
    Department of Pediatrics, Erasmus University Medical Center Rotterdam and Sophia Children s Hospital, Rotterdam, The Netherlands
    Eur J Hum Genet 8:827-36. 2000
  2. ncbi request reprint PCR-based detection of CYP21 deletions
    Paul F J Koppens
    Clin Chem 49:1555-6; author reply 1556-7. 2003
  3. ncbi request reprint Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions
    Paul F J Koppens
    Department of Paediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Hum Mol Genet 11:2581-90. 2002
  4. ncbi request reprint Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
    Paul F J Koppens
    Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Hum Genet 111:405-10. 2002

Detail Information

Publications4

  1. ncbi request reprint CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands
    P F Koppens
    Department of Pediatrics, Erasmus University Medical Center Rotterdam and Sophia Children s Hospital, Rotterdam, The Netherlands
    Eur J Hum Genet 8:827-36. 2000
    ..Apparent 'large-scale' CYP21-CYP21P gene conversions lead to hybrid genes that are very similar to those found in CYP21 deletions, so these haplotypes have probably resulted from a meiotic double unequal crossover...
  2. ncbi request reprint PCR-based detection of CYP21 deletions
    Paul F J Koppens
    Clin Chem 49:1555-6; author reply 1556-7. 2003
  3. ncbi request reprint Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions
    Paul F J Koppens
    Department of Paediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Hum Mol Genet 11:2581-90. 2002
    ..Since it is unlikely that the term 'large-scale gene conversion' describes a mechanism that actually occurs between the CYP21A2 and CYP21A1P genes, we propose the discontinuation of that terminology...
  4. ncbi request reprint Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
    Paul F J Koppens
    Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Hum Genet 111:405-10. 2002
    ....