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. 2014 Nov 11;9(11):e112188. doi: 10.1371/journal.pone.0112188

Table 1. Clinical characteristics of subjects.

Case Sex Age (year) UPCR (mg/g) UACR (mg/g) GFR (ml/min/1.73 m2) GLA Mutation Mutation Type Aangiokeratoma Corneal Opacity
1 F 8 40 NA NA* NA NA + +
2 F 11 0.02 53 105 c.800T>G(p.M267R) Missense + +
3 F 12 29 NA 109 W236X Nonsense
4 F 13 0 NA 97 Y216D Missense +
5 F 13 60 5 100 NA NA +
6 F 14 62 11 90 c.800T>G(p.M267R) Missense NA NA
7 F 16 30 12 127 NA NA
8 F 34 150 NA 118 R301Q Missense +
9 F 34 100 5 99 R112C Missense +
10 F 39 100 NA 78 1270T Missense + +
11 F 39 40 ND 99 N215S Missense +
12 F 63 1150 NA 46 C.427G>Cp.Ala143Pro Missense +
13 M 7 0 NA 183 Y216D Missense + +
14 M 16 92 12 112 c.1212_1214delAAG Deletion + +
15 M 18 251 135 96 c.800T>G(p.M267R) Missense + +
16 M 23 102 NA 111 NA NA NA NA

Abbreviations: UPCR = urine protein/creatinine ratio; UACR = urine albumin/creatinine ratio; GFR = glomerular filtration rate; NA = data not available; *Serum creatinine within the normal range; F = female; M = male; ND = Not detectable.