SMN Copy Number Distribution in Mali, West Africa
|ClinicalTrials.gov Identifier: NCT01059240|
Recruitment Status : Completed
First Posted : January 29, 2010
Last Update Posted : May 21, 2018
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )
No Study Results Posted on ClinicalTrials.gov for this Study
|Recruitment Status :||Completed|
|Primary Completion Date :||No date given|
|Study Completion Date :||May 18, 2017|
Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997 Jul;16(3):265-9.
Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D. Population screening and cascade testing for carriers of SMA. Eur J Hum Genet. 2007 Jul;15(7):759-66. Epub 2007 Mar 28.
Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet. 1997 Nov;61(5):1102-11.