Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients

We describe a mutation and haplotype analysis of Papillon-Lefèvre syndrome probands that provides evidence of a founder effect for four separate cathepsin C mutations. A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefèvre syndrome (PLS) and associated...

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Autores principales: Zhang, Y, Lundgren, T, Renvert, S, Tatakis, D, Firatli, E, Uygur, C, Hart, P, Gorry, M, Marks, J, Hart, T
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2001
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734811/
https://ncbi.nlm.nih.gov/pubmed/11158173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.2.96
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