Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome = Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

참고문헌 (Reference)

1 Alkhiary YM, "Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family" 23 : 571-576, 2016

2 Hashmi JA, "Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa" 58 : 10-15, 2018

3 Haneke E, "The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature" 51 : 1-35, 1979

4 Turk D, "Structure of human dipeptidyl peptidase I(cathepsin C) : exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases" 20 : 6570-6582, 2001

5 Moghaddasian M, "Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome" 538 : 182-187, 2014

6 Idon PI, "Papillon-lefevre syndrome : review of literature and report of three cases in the same family" 22 : 75-82, 2015

7 Toomes C, "Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis" 23 : 421-424, 1999

8 Nagy N, "CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update" 2 : 217-228, 2014

9 Basit S, "CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly" 135 : 1199-1207, 2016

10 Hamon Y, "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome" 283 : 498-509, 2016