P F Koppens
Affiliation: Erasmus University
Country: The Netherlands
- CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the NetherlandsP 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...
- PCR-based detection of CYP21 deletionsPaul F J Koppens
Clin Chem 49:1555-6; author reply 1556-7. 2003
- Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversionsPaul 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...
- Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypesPaul F J Koppens
Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
Hum Genet 111:405-10. 2002....