Associated Papers
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Yuen YP et al.
Kidney International, 2006
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes M et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
Harnevik L et al.
Human Mutation, 2001
[Cystinuria and cystine kidney lithiasis. Diagnosis and therapeutic approach].
Rousaud F et al.
Archivos Espanoles De Urologia, 2001
Cystinuria type I: identification of eight new mutations in SLC3A1.
Bisceglia L et al.
Kidney International, 2001
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