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Table 4 Representative fluorescence and allele ratio clinical data

From: Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

  first design second design
  c.1448T c.1448T>C Ratio call c.1448T c.1448T>C Ratio call
patient 4 1108 579 0.34 c.1448T>C heta 1249 54 0.04 Normal
patient 9 1068 585 0.35 c.1448T>C het 1091 93 0.08 Normal
patient 11 1273 679 0.35 c.1448T>C het NDb ND ND ND
patient 14 1229 654 0.35 c.1448T>C het 871 87 0.09 Normal
patient 17 1357 58 0.04 Normal 977 126 0.11 Normal
patient 27 1391 15 0.01 Normal ND ND ND ND
NA10915 57 1804 0.97 c.1448T>C mutc 5 1133 1.00 c.1448T>C mut
NA03461 1268 36 0.03 Normal 1228 0 0.00 Normal
NA08753 NAd NA NA NA 844 603 0.42 c.1448T>C het
  1. ac.1448T>C heterozygous
  2. bNot Determined, limited sample volume exhausted during prior experimentation
  3. cc.1448T>C homozygous mutant
  4. dNot Available at the time of experimentation with first design