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Autoimmune Lymphoproliferative Syndrome (ALPS)

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Caspase-10 Mutations Causing ALPS Type II

Caspase-10 II Mutations
Two unique mutations have been found in 2 unrelated families. Caspase-10 exists in two equally expressed isoforms as a result of differential mRNA splicing. The isoform, Caspase-10L, is 43 amino acids larger than the short isoform.

Ref: Wang J, et al.:Cell, 1999

Last Updated May 21, 2009