Fig. 1From: SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case reportIdentification of two novel SLC4A4 mutations. The sequence analysis for the proband and the parents revealed the presence of compound heterozygous mutations c.1076 + 3A > C (a) and c.1772 − 2A > T (b)Back to article page