Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Qureshi, Shumaila"'
Autor:
Prior, Thomas W., Bayrak-Toydemir, Pinar, Lynnes, Ty C., Mao, Rong, Metcalf, James D., Muralidharan, Kasinathan, Iwata-Otsubo, Aiko, Pham, Ha T., Pratt, Victoria M., Qureshi, Shumaila, Requesens, Deborah, Shen, Junqing, Vetrini, Francesco, Kalman, Lisa
Publikováno v:
In The Journal of Molecular Diagnostics January 2021 23(1):103-110
Autor:
Prior, Thomas W., Bayrak-Toydemir, Pinar, Lynnes, Ty C., Mao, Rong, Metcalf, James D., Muralidharan, Kasinathan, Iwata-Otsubo, Aiko, Pham, Ha T., Pratt, Victoria M., Qureshi, Shumaila, Requesens, Deborah, Shen, Junqing, Vetrini, Francesco, Kalman, Lisa
Publikováno v:
J Mol Diagn
Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, are associated with a less severe phenotype. SMA was rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a83c7adda65ebcb10d55a10f18b9ea31
https://europepmc.org/articles/PMC9641717/
https://europepmc.org/articles/PMC9641717/
