ISSN:
1432-198X
Keywords:
Key words Lipoprotein glomerulopathy
;
Deletion mutation
;
Apolipoprotein E
;
Novel variant protein
;
DNA sequence analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050032
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