Mutation Details for c.53+178t>C

cDNA Name c.53+178t>C 
Exon or Intron intron 1 
Other Details  
Contributors and Institutes
Ruslan Dorfman - The Hospital for Sick Children, Toronto, Canada
Julian Zielenski - The Hospital for Sick Children, Toronto, Canada
Peter Durie - The Hospital for Sick Children, Toronto, Canada
  
Submitted Phenotype Details this rare polymorphism was identified in a patient with A1AT deficiency 
Reference  

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The Database was last updated at Apr 25, 2011