Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
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DOI: 10.1055/s-0043-104218
Abstract: Background Heterozygous point mutations in the GT splice donor consensus sequence of exon 11 of the PIK3R1 gene (coding for p85α, p55α, and p50α regulatory subunits of PI3K) lead to exon skipping and thereby to… read more here.
Keywords: pik3r1 hypermorphic; clinical phenotypes; variant pik3r1; family ... See more keywords