Fig. 2.

Two novel ATP6V1B1 mutations identified in a Chinese patient with dRTA. a Partial nucleotide sequence of the wild type and the successive 2-nucleotide deletion in exon 2(c.133-134delTG). The arrow indicated the position of deleted TG in exon 2. b The guanine to adenine substitution of the first nucleotide of intron 8(c.785 + 1 G > A). The arrow indicated the position of G > A mutation in intron 8