Copyright
©2013 Baishideng Publishing Group Co.
World J Nephrol. Nov 6, 2013; 2(4): 94-102
Published online Nov 6, 2013. doi: 10.5527/wjn.v2.i4.94
Published online Nov 6, 2013. doi: 10.5527/wjn.v2.i4.94
Inherited proximal RTA | Gene | Chromosomal mapping |
Autosomal recessive | SLC4A4 | 4q21 |
Dent´s syndrome | CLCN5 | Xp11.22 |
Cystinosis | CTNS | 17p13.2 |
Tyrosinemia type 1 | FAH | 15q23-q25 |
Galactosemia | GALT | 9p13 |
Wilson´s disease | ATP7B | 13q14.3-q21.1 |
Fanconi Bickel Syndrome | SLC2A2 | 3q26.1-26.3 |
- Citation: Al-Haggar M. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. World J Nephrol 2013; 2(4): 94-102
- URL: https://www.wjgnet.com/2220-6124/full/v2/i4/94.htm
- DOI: https://dx.doi.org/10.5527/wjn.v2.i4.94