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Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
K L Swango, M Demirkol, G H√ľner, E Pronicka, J Sykut-Cegielska, A Schulze, E Mayatepek, B Wolf
Human Genetics 1998; 102(5):571-575
ICID: 696913
IC™ Value: 10.00
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  • E Pronicka - click here
  • J Sykut-Cegielska - click here