A point mutation in the lariat branch point of intron 6 of...

Human Mutation 2004 Vol. 24; Iss. 5

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

Enza Di Leo, Francesca Panico, Patrizia Tarugi, Carla Battisti, Antonio Federico, Sebastiano Calandra
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Volume:
24
Year:
2004
Language:
english
Pages:
1
DOI:
10.1002/humu.9287
File:
PDF, 406 KB
english, 2004
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