Deleterious mutation inGPR88is associated with chorea, speech delay, and learning disabilities
نویسندگان
چکیده
منابع مشابه
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities
OBJECTIVE To identify the underlying molecular basis of a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties in 4 sisters from a consanguineous family. METHODS Whole-exome analysis of DNA of the 2 older patients followed by Sanger sequencing of the mutated exon in all family members. RESULTS A homozygous deleterious mutation, p.C291X, was...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2016
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000064