Maternal Mosaicism for a Second Mutational Event in a Type I Spinal Muscular Atrophy Family

This publication has 52 references indexed in Scilit:

• Correlation between severity and SMN protein level in spinal muscular atrophy
  Nature Genetics, 1997
• Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
  American Journal of Human Genetics, 1997
• Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype
  Neuromuscular Disorders, 1997
• An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene
  Human Molecular Genetics, 1996
• Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
  Annals of Neurology, 1996
• Mapping of Retrotransposon Sequences in the Unstable Region Surrounding the Spinal Muscular Atrophy Locus in 5q13
  Genomics, 1995
• Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
  Journal of Medical Genetics, 1995
• Identification and characterization of a spinal muscular atrophy-determining gene
  Cell, 1995
• De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy
  Prenatal Diagnosis, 1995
• A Cluster of Transposon-like Repetitive Sequences in Intron 7 of the Human Dystrophin Gene
  Journal of Molecular Biology, 1993