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Article

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

4 Sept 2008

Abstract excerpt

In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation. We showed that the function of the resulting truncated IL1RAPL1...

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PMID: 18801879
DOI: 10.1093/hmg/ddn300

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