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Compound Heterozygous Polymerase Gamma Gene Mutation in a Patient With Alpers Disease

✍ Scribed by Javier F. Cardenas; R. Stephen Amato


Book ID
113915162
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
783 KB
Volume
17
Category
Article
ISSN
1071-9091

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Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a P