Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
作者： Stefano Lise , Yvonne Clarkson , Emma Perkins , Alexandra Kwasniewska , Elham Sadighi Akha
DOI: 10.1371/JOURNAL.PGEN.1003074
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摘要: … Three heterozygous dominant mutations in SPTBN2 have … of recessive mutations in SPTBN2 in which there is a severe … to be involved in memory function including prefrontal cortical (…
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