| Title : A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency - Gotoda_1992_Biochim.Biophys.Acta_1138_353 |
| Author(s) : Gotoda T , Yamada N , Murase T , Miyake S , Murakami R , Kawamura M , Kozaki K , Mori N , Shimano H , Shimada M , Yazaki Y |
| Ref : Biochimica & Biophysica Acta , 1138 :353 , 1992 |
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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. |
| PubMedSearch : Gotoda_1992_Biochim.Biophys.Acta_1138_353 |
| PubMedID: 1562620 |
| Mutation | A248fsX3_human-LPL |
| Disease | Hyperlipoproteinemia TypeI |
Gotoda T, Yamada N, Murase T, Miyake S, Murakami R, Kawamura M, Kozaki K, Mori N, Shimano H, Shimada M, Yazaki Y (1992)
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency
Biochimica & Biophysica Acta
1138 :353
Gotoda T, Yamada N, Murase T, Miyake S, Murakami R, Kawamura M, Kozaki K, Mori N, Shimano H, Shimada M, Yazaki Y (1992)
Biochimica & Biophysica Acta
1138 :353