De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Lignende værker

• Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
  af: Hahnen, E., et al.
  Udgivet: (1996)
• Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
  af: Rudnik-Schöneborn, S., et al.
  Udgivet: (1994)
• 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.
  af: Wirth, B, et al.
  Udgivet: (1999)
• Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
  af: Rudnik-Schöneborn, S., et al.
  Udgivet: (1996)
• Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
  af: Spranger, S, et al.
  Udgivet: (1997)