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Tandem Duplication of Exons 1–7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype
ATP7A duplications are estimated to represent the molecular cause of Menkes disease in 4–10% of affected patients. We identified a novel duplication of ATP7A exons 1–7 discovered in the context of a challenging prenatal diagnostic situation. All other reported ATP7A duplications (n = 24) involved in...
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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4375122/ https://ncbi.nlm.nih.gov/pubmed/25638460 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_391 |
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