Associated Papers
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S10
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Yuen YP et al.
Kidney International, 2006
Molecular biology of mammalian plasma membrane amino acid transporters.
Palacín M et al.
Physiological Reviews, 1998
335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria.
Gitomer WL et al.
Human Mutation, 1998
An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.
Chillarón J et al.
The Journal of Biological Chemistry, 1997
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Bisceglia L et al.
Human Genetics, 1996
The molecular basis of cystinuria: the role of the rBAT gene.
Palacín M et al.
Amino Acids, 1996
Role of rBAT gene products in cystinuria.
Miyamoto K et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 1996
Mutations of the basic amino acid transporter gene associated with cystinuria.
Miyamoto K et al.
The Biochemical Journal, 1995
The molecular basis of cystinuria: an update.
Goodyer P et al.
Experimental Nephrology, 0
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