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Genotype-phenotype correlation in combined deficiency of factor V and factor VIII
Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutati...
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| Hlavní autoři: | , , , , , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society of Hematology
2008
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2424156/ https://ncbi.nlm.nih.gov/pubmed/18391077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-10-113951 |
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