Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients


Hart P., Zhang Y., Firatli E. , Uygur C., Lotfazar M., Michalec M., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.37, ss.927-932, 2000 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 12
  • Basım Tarihi: 2000
  • Doi Numarası: 10.1136/jmg.37.12.927
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.927-932

Özet

Introduction-Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results fi om deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity.