PMC7249804_01
Genetic testing of two novel TRPC6 mutations. The arrow shows the position where base substitution results in changes in amino acids.
fped-08-00269-g0001.jpg
PMC7249804_02_fped-08-00269-g0001.jpg
F1
It showed that a new missense change (c.335C>G) was identified in exon 2 causing a proline-to-arginine substitution (P112R) within the first ankyrin repeat of the TRPC6 protein (Figure 1).
Renal pathological presentation of two proband. (A,G) for light microscopy (PASx400); (B-E,H,I) for immunofluorescence; (F) for electron microscope. The figure of Case 2 is for subsequent biopsy.
fped-08-00269-g0002.jpg
PMC7249804_02_fped-08-00269-g0002.jpg
F2
Staining for IgG, C3, and C1q was negative (Figure 2).
PMC7249804_02
Genetic testing of two novel TRPC6 mutations. The arrow shows the position where base substitution results in changes in amino acids.
fped-08-00269-g0001.jpg
PMC7249804_02_fped-08-00269-g0001.jpg
F1
It showed that a new missense change (c.335C>G) was identified in exon 2 causing a proline-to-arginine substitution (P112R) within the first ankyrin repeat of the TRPC6 protein (Figure 1).
Renal pathological presentation of two proband. (A,G) for light microscopy (PASx400); (B-E,H,I) for immunofluorescence; (F) for electron microscope. The figure of Case 2 is for subsequent biopsy.
fped-08-00269-g0002.jpg
PMC7249804_02_fped-08-00269-g0002.jpg
F2
Staining for IgG, C3, and C1q was negative (Figure 2).