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Table 3 Geographic distribution of previously reported dRTA populations carrying the ATP6V1B1 and ATP6V0A4 gene mutations described in this study

From: Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes

Gene

Mutation

Origin

Number of families

Reference

ATP6V1B1

c.1155dupC

Sweden

1

[7]

Spain

2

Saudi Arabia

1

[9]

Sicily

1

Morocco

1

Tunisia

1

[11]

Algeria

5

Tunisia

9

Current study

c.175-1G > C

Tunisia

1

[11]

Algeria

2

Tunisia

3

Current study

c.1102G > A

Tunisia

1

Current study

ATP6V0A4

c.16C > T

Pakistan

1

[11]

Tunisia

4

Current study

c.1739 T > C

Turkey

1

[8]

Tunisia

1

Current study

c.2035G > T

Pakistan

1

[11]

Tunisia

1

Current study

c.1221delG

Tunisia

1

Current study and [23]