Table 4.

Alleles from European patients with clinical PK deficiency who have the 1456T or 1529A common mutations

Reference Population 1456T (%) 1529A (%)
12 US White  5/50 (10)  25/50 (50)  
10  European 6/58 (10.3)  23/58 (39.7)  
15  German  0/10 (00.0) 2/10 (20.0)  
11  Italian  7/30 (23.3)  3/30 (10.0) 
16  Spanish  7/24 (29.1)  0/24 (00.0)  
14 Portuguese  7/18 (38.9)  0/18 (00.0)  
17  Southern Italy  3/14 (21.4)  2/14 (14.3)  
Present study  White 2/36 (5.6)  13/36 (36.1)  
 Total   37/240 (15.4) 68/240 (28.3) 
Reference Population 1456T (%) 1529A (%)
12 US White  5/50 (10)  25/50 (50)  
10  European 6/58 (10.3)  23/58 (39.7)  
15  German  0/10 (00.0) 2/10 (20.0)  
11  Italian  7/30 (23.3)  3/30 (10.0) 
16  Spanish  7/24 (29.1)  0/24 (00.0)  
14 Portuguese  7/18 (38.9)  0/18 (00.0)  
17  Southern Italy  3/14 (21.4)  2/14 (14.3)  
Present study  White 2/36 (5.6)  13/36 (36.1)  
 Total   37/240 (15.4) 68/240 (28.3) 

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