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cge1891-sup-0001-FigureS1.pdfWord document53K

Fig. S1. Mutations in ATP6V1B1 in patients and their relatives. Control sequence shows an unrelated unaffected individual. (a) Sequencing data showed one homozygous ATP6V1B1 missense mutation in exon 3 (c.242T> C, p.Leu81Pro) and a second homozygous variant in exon 6 (c.481G> A, p.Glu161Lys) in index patient family 1. Direct Sequencing of exons 3 and 6 of the ATP6V1B1 gene showed that both parents are heterozygous for the mutation c.242T >C (p.Leu81Pro) in exon 3 and c.481G>A (p.Glu161Lys) in exon 6, respectively. (b) Heterozygous ATP6V1B1 missense mutations in exon 3 (c. 242T>C, p.Leu81Pro) were detected in one sister and the mother of the index patient family 2. The father and another sister showed a heterozygous mutation in exon 10 (c.1037C>G, p.Pro346Arg).

cge1891-sup-0002-FigureS2.pdfWord document335K

Fig. S2. Ultrasound examination of the right (a) and left (b) kidney of index patient II. Typical signs of nephrocalcinosis (hyperechoic renal medullary pyramids) are shown by ultrasound.

cge1891-sup-0003-TableS1.pdfWord document12K

Table S1. Biochemical and clinical data of index patients.

cge1891-sup-0004-TableS2.pdfWord document48K

Table S2. Biochemical and clinical data of patients' family members.

cge1891-sup-0005-TableS3.pdfWord document79K

Table S3. Published disease-causing human mutations in ATP6V1B1

cge1891-sup-0006-AppendixS1.docxWord document12K

Appendix S1. Methods.

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