Table 2 FAH gene mutations in geographic regions43

From: Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Mutations

Geographic location

Frequency in population

c.1062+5G>A (IVS12+5G>A)a

French Canada

86%

 

Northern Europe

46%

p.W262X

Finland

80%

c.554-1G>T (IVS6-1G>T)a

Southern Europe

64%

p.G337S

Norway

58%

p.Q64H

Pakistan

92%

p.D233V

Turkey

94%

  1. aThe two most common mutations in the United States.
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