One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

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Palmoplantar keratodermas: clinical and genetic aspects.Periodontal and other oral manifestations of immunodeficiency diseases.Inherited diseases caused by mutations in cathepsin protease genes.Salivary Tick Cystatin OmC2 Targets Lysosomal Cathepsins S and C in Human Dendritic Cells.

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P2860

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

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2015 nî lūn-bûn

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One mutation, two phenotypes: ...... linically distinct phenotypes.

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One mutation, two phenotypes: ...... linically distinct phenotypes.

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P2860

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene

CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome

Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases.

Papillon-Lefèvre syndrome patient reveals species-dependent requirements for neutrophil defenses

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One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

about

P2860

P2860

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

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