Genetic basis of hyperlysinemia


Houten S. M. , te Brinke H., Denis S., Ruiter J. P. N. , Knegt A. C. , de Klerk J. B. C. , ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.8, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1186/1750-1172-8-57
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES

Özet

Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding alpha-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.