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    Neurosci Lett. 1992 Jun 8;140(1):89-92.

    Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA.

    Iwaki A, Iwaki T, Goldman JE, Ogomori K, Tateishi J, Sakaki Y.

    Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.

    alpha B-Crystallin is a major protein component of Rosenthal fibers, which massively accumulate in the brains of patients suffering from Alexander's disease. To examine whether or not accumulation of alpha B-crystallin is due to any abnormality of the gene structures, we determined the sequence of the alpha B-crystallin gene in two cases of pathologically confirmed Alexander's disease. Direct sequencing of the promoter and coding regions of the alpha B-crystallin gene in patients revealed them to have a normal sequence. Northern blotting showed a single alpha B-crystallin mRNA species expressed in the Alexander's disease brain.

    PMID: 1407707 [PubMed - indexed for MEDLINE]

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