Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

This publication has 40 references indexed in Scilit:

• A BRCA1 Nonsense Mutation Causes Exon Skipping
  American Journal of Human Genetics, 1998
• Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors
  American Journal of Human Genetics, 1998
• Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV
  American Journal of Human Genetics, 1997
• The Regulation of Splice-Site Selection, and Its Role in Human Disease
  American Journal of Human Genetics, 1997
• Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
  Nature Genetics, 1997
• Heterozygous ATM mutations do not contribute to early onset of breast cancer
  Nature Genetics, 1997
• Genomic Organization of the ATM Gene
  Genomics, 1996
• A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase
  Science, 1995
• The Stop Mutation R553X in the CFTR Gene Results in Exon Skipping
  Genomics, 1994
• Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
  Genomics, 1989