Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Similar Items

• Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
  od: Hahnen, E., i dr.
  Izdano: (1996)
• Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
  od: Rudnik-Schöneborn, S., i dr.
  Izdano: (1994)
• De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
  od: Wirth, B, i dr.
  Izdano: (1997)
• Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
  od: Rudnik-Schöneborn, S., i dr.
  Izdano: (1996)
• A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
  od: Lorson, Christian L., i dr.
  Izdano: (1999)