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Identification of Recombinant Alleles Using Quantitative Real-Time PCR: Implications for Gaucher Disease

Pseudogenes, resulting from duplications of functional genes, contribute to the functional complexity of their parental genes. The glucocerebrosidase gene (GBA), located in a gene-rich region on chromosome 1q 21, is mutated in Gaucher disease. The presence of contiguous, highly homologous pseudogene...

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Autori principali: Velayati, Arash, Knight, Melanie A., Stubblefield, Barbara K., Sidransky, Ellen, Tayebi, Nahid
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3123786/
https://ncbi.nlm.nih.gov/pubmed/21704274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2011.02.005
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