Τρίτη 10 Ιανουαρίου 2017

Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression

Capsule summary: The identification of homozygous FAS mutations with normal or residual protein expression expands the spectrum of autoimmune lymphoproliferative syndrome types and should prompt clinicians to search for such patients particularly in highly endogamous populations.

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