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-Expanded) 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
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe Üniversitesi Adresli: Evet

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.