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Purpose: The β3 subunit of the γ‐aminobutyric acid type A receptors (GABAA–Rs) is an essential component of GABAA–Rs in fetal, perinatal, and adult mammalian brain. Various transcripts of the β3 subunit gene (GABRB3) produce various proteins with different N‐termini. Rare variants in this N‐terminus (exon 1A and exon 2) of GABRB3 protein segregate in affected family members of two multigeneration‐multiplex...
The loci involved in several X-linked mental retardation syndromes have been linked to the pericentromeric region of the X chromosome long arm (Xq12-q21). To isolate candidate genes for these diseases, we set up the construction of YAC contigs spanning this region. Two of these syndromes (the Juberg-Marsidi syndrome and the α-thalessemia mental retardation syndrome) have been recently linked, with...
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