Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

This publication has 10 references indexed in Scilit:

• Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis
  Clinical Genetics, 2008
• DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies
  Clinical Chemistry, 1996
• Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
  Human Molecular Genetics, 1995
• The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
  Cell, 1995
• Identification and characterization of a spinal muscular atrophy-determining gene
  Cell, 1995
• De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies
  Science, 1994
• First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers
  Prenatal Diagnosis, 1994
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
  Nature, 1993
• Heterogeneity in proximal spinal muscular atrophy
  The Lancet, 1990
• Molecular mechanisms for gene conversion in higher cells
  Trends in Genetics, 1986