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
Autori principali: Carson, Vincent J., Puffenberger, Erik G., Bowser, Lauren E., Brigatti, Karlla W., Young, Millie, Korulczyk, Dominika, Rodrigues, Ashlin S., Loeven, KaLynn K., Strauss, Kevin A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2018
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Research Article
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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