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Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history
We correlate chromosome 5 haplotypes and SMN2 copy number with disease expression in 42 Mennonite and 14 Amish patients with spinal muscular atrophy (SMA). A single haplotype (A1) with 1 copy of SMN2 segregated among all Amish patients. SMN1 deletions segregated on four different Mennonite haplotype...
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| Pubblicato in: | PLoS One |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6126807/ https://ncbi.nlm.nih.gov/pubmed/30188899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0202104 |
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