BMC Medical Genetics

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	Normal^a
NA10915	57	1804	0.97	c.1448T>C mut^{a, b}

^aGenotype sequence confirmed (data not shown)
^bc.1448T>C homozygous mutant

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ISSN: 1471-2350

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