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Koppens, P.F.J.
( P.F.J. Koppens)
21- hydroxylase deficiency hydroxylase 21- deficiency mutation patient haplotype cyp 21 gene cyp 21 chromosome deletion hyperplasia cyp 21p 21- hydroxylase conversion family complement analysis defect region module fragment chapter cyp 21 genes sequence study koppen table cyp 21p genes restriction rccx module crossover population endocrinol c 4 genes allele c 4 gene 120 bp deletion class genet polymorphism aldosterone number 21- hydroxylase genes pseudogene 21- hydroxylase gene gene conversion rccx modules speiser metab frequency cyp 21 defects higashi report 21 hydroxylase deficiency intron cyp 21p gene cyp 21p pseudogene locus control section mechanism result component histocompatibility difference enzyme disease 3.2 probe bimodular 2.4 8 bp deletion netherland pattern hoogenboezem t wedell miller gene conversions complement c 4
2 Most Recent Publications
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Molecular genetics and epidemiology of steroid 21-hydroxylase deficiency. Origin of disease-causing mutations.
(Doctoral Thesis)
Koppens, P.F.J. |
2002-06-26
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Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions
(Article)
Hoogenboezem, T. Degenhart, H.J. Koppens, P.F.J. |
2002-01-01
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