Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts
| Autor: | Patricia Aguilar-Martinez, Schved Jf, Mireille Claustres, Jacques Demaille, Sylvie Tuffery, Jean-Christophe Gris, Claude Maugard |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Genetics Factor VIII Transcription Genetic DNA Mutational Analysis Molecular Sequence Data Protein Truncation Biology Hemophilia A Introns Alternative Splicing Chromosome Inversion Mutation Mutation (genetic algorithm) Humans Point Mutation Severe haemophilia A Amino Acid Sequence RNA Messenger Frameshift Mutation Genetics (clinical) |
| Zdroj: | Human Mutation. 11:18-22 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/(sici)1098-1004(1998)11:1<18::aid-humu3>3.0.co;2-h |
| Databáze: | OpenAIRE |
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