Abstract
We have previously reported an 8-year-old girl with lipoprotein glomerulopathy. Assessment of serum apolipoprotein E (apo E) in this patient showed a discrepancy between phenotype and genotype, suggesting that she may have a variant of apo E. The present report concerns our analysis of DNA sequences of the apo E gene in the patient: nine base pairs were found to be deleted from exon 4. This mutation would appear to encode a new apo E variant lacking three amino acids. This variant may be associated with the pathogenesis of lipoprotein glomerulopathy.
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Received: 28 August 1998 / Revised: 2 February 1999 / Accepted: 5 February 1999
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Ogawa, T., Maruyama, K., Hattori, H. et al. A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy. Pediatr Nephrol 14, 149–151 (2000). https://doi.org/10.1007/s004670050032
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DOI: https://doi.org/10.1007/s004670050032