[HTML][HTML] Characterization of reference materials for spinal muscular atrophy genetic testing: a genetic testing reference materials coordination program collaborative …
TW Prior, P Bayrak-Toydemir, TC Lynnes, R Mao… - The Journal of Molecular …, 2021 - Elsevier
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 …
by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly …