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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126807/
https://www.ncbi.nlm.nih.gov/pubmed/30188899
http://dx.doi.org/10.1371/journal.pone.0202104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126807/
https://www.ncbi.nlm.nih.gov/pubmed/30188899
http://dx.doi.org/10.1371/journal.pone.0202104

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