Ellie in the limelight of PCH2

Anna van Mansom • Boek • paperback

• Samenvatting
  Ponto-cerebellar hypoplasia type 2 (PCH2) is common in Volendam. Hence, this condition is also known as the Volendam disease. Now researchers at the AMC have discovered the genetic basis of PCH2. They have found mutations in three genes, which are part of a large enzyme complex. In this short story, I try to relate the personal impact on an ordinary family and the promising development of one of these mutations.
• Productinformatie
  Binding : Paperback
  Distributievorm : Boek (print, druk)
  Formaat : 148mm x 210mm
  Aantal pagina's : 21
  Uitgeverij : Anna van Mansom
  ISBN : Niet bekend
  Datum publicatie : 05-2023
  
• Inhoudsopgave
  Ponto-cerebellar hypoplasia type 2 (PCH2) is common in Volendam. Hence, this condition is also known as the Volendam disease. Now researchers at the AMC have discovered the genetic basis of PCH2. They have found mutations in three genes, which are part of a large enzyme complex. In this short story, I try to relate the personal impact on an ordinary family and the promising development of one of these mutations.
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