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

Hart, PS; Zhang, Y; Firatli, HALİL; Uygur, C; Lotfazar, M; Michalec, MD; Marks, JJ; Lu, X; Coates, BJ; Seow, WK; MarshaIl, R; Williams, D; Reed, JB; Wright, JT; Hart, TC

doi:10.1136/jmg.37.12.927

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, sa.12, ss.927-932, 2000 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 37 Sayı: 12
Basım Tarihi: 2000
Doi Numarası: 10.1136/jmg.37.12.927
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.927-932
İstanbul Üniversitesi Adresli: Evet

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.