Xcode Life

Condition: Spinal Muscular Atrophy

rs1217001154 in SMN2;SMN1 gene and Spinal Muscular Atrophy

PMID 20442745 2010 Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

PMID 26606804 2015 [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].

PMID 18155522 2008 A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

PMID 19050931 2009 Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

PMID 11839954 2002 Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

PMID 10679938 2000 An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

PMID 18572081 2008 Spinal muscular atrophy.