Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Dominika Korulczyk"'
Autor:
Vincent J Carson, Erik G Puffenberger, Lauren E Bowser, Karlla W Brigatti, Millie Young, Dominika Korulczyk, Ashlin S Rodrigues, KaLynn K Loeven, Kevin A Strauss
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
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 deletion
Externí odkaz:
https://doaj.org/article/b0b1f5ec37954fb1bcb69e96611e98eb
Autor:
Millie Young, Dominika Korulczyk, Vincent J Carson, Kevin A. Strauss, KaLynn K. Loeven, Erik G. Puffenberger, Ashlin S. Rodrigues, Lauren E. Bowser, Karlla W. Brigatti
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)
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 deletion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e808f2e5e70580a9386b321455288cfa
http://europepmc.org/articles/PMC6126807
http://europepmc.org/articles/PMC6126807