Results 241 to 247 of about 12,639 (247)

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

Nature Genetics, 2002
exaly  

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

European Journal of Human Genetics, 2018
Laura Alías, Sara Bernal, Pia Gallano
exaly  

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

Annals of Neurology, 2002
Philippe Corcia, Bertrand de Toffol, William Camu   +2 more
exaly  

Atrofia muscular espinhal associada a mutações do gene SMN1

2021
openaire   +1 more source

Differences in SMN1 allele frequencies among ethnic groups within North America

Journal of Medical Genetics, 2009
exaly  

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy

Human Mutation, 2005
exaly  

Точковые мутации в генеSMN1у больных проксимальной спинальной мышечной атрофией I–IV типа, имеющих одну копию генаSMN1

Генетика, 2015
openaire   +1 more source