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  • Title: A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
    Author: Gotoda T, Yamada N, Murase T, Miyake S, Murakami R, Kawamura M, Kozaki K, Mori N, Shimano H, Shimada M.
    Journal: Biochim Biophys Acta; 1992 Apr 14; 1138(4):353-6. PubMed ID: 1562620.
    Abstract:
    In a Japanese patient with familial LPL deficiency, a new null allelic mutation, one base pair deletion at nucleotide position 916 was identified in exon 5 of one allele. In exon 3 of the other allele, we found the same nonsense mutation as we described previously in other Japanese kindreds. For the deletional mutant allele, we developed a simple detection method and constructed the DNA haplotype.
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