Skip to main content

Table 2 Representative fluorescence and allele ratio developmental data

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

  MFI   
Cell Line Sample c.1448T c.1448T>C Ratio call
NA03461 1268 36 0.03 Normal
NA09960 1285 10 0.01 Normal
NA16193 1142 71 0.06 Normal
NA00852 1353 110 0.08 Normal
NA11215 1228 53 0.04 Normala
NA10915 57 1804 0.97 c.1448T>C muta, b
  1. aGenotype sequence confirmed (data not shown)
  2. bc.1448T>C homozygous mutant
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us