A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency. |
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| Authors: | T Gotoda N Yamada T Murase S Miyake R Murakami M Kawamura K Kozaki N Mori H Shimano M Shimada |
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| Affiliation: | Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan. |
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| 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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