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Pseudoxanthoma Elasticum: A Streamlined, Ethnicity‐based Mutation Detection Strategy
Pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem disorder, is caused by mutations in the ABCC6 gene, and approximately 300 distinct mutations representing >1,000 mutant alleles have been disclosed thus far. Few population‐based studies have reported mutational hotspots in some g...
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| Huvudupphovsmän: | , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Blackwell Publishing Inc
2010
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3076205/ https://ncbi.nlm.nih.gov/pubmed/21167005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1752-8062.2010.00243.x |
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