Medicine by Sfakianakis Alexandros: IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Σάββατο 5 Ιανουαρίου 2019

IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene. Due to a leaky clinical phenoty...

http://bit.ly/2Qre2J4

Σάββατο 5 Ιανουαρίου 2019

IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

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