JASReference:Maruyama T:Miyake Y:Yamamura T:Tajima S:Funahashi T:Matsuzawa Y:Yamamoto A:,Hum Mutat,1998,11,480
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|title=A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online | |title=A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online | ||
| + | |doi=10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W | ||
|pmid=10200052 | |pmid=10200052 | ||
}} | }} | ||
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- [10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU11>3.0.CO;2-W Direct PDF link]
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| Authors = | Maruyama_T Miyake_Y Yamamura_T Tajima_S Funahashi_T Matsuzawa_Y Yamamoto_A (Click a name to see records for each author.) |
| Journal = | Human Mutation ( Other reports in this journal (0 pages)) |
| Year = | 1998 |
| Volume = | 11 |
| Page = | 480 |
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Genetic mutations in this article
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JASReference:Maruyama T:Miyake Y:Yamamura T:Tajima S:Funahashi T:Matsuzawa Y:Yamamoto A:,Hum Mutat,1998,11,480
