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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Group
2001
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| Θέματα: | |
| Διαθέσιμο Online: | 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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