Results 181 to 190 of about 2,192 (190)

Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0543.

Human genetics, 2007
T, Eggermann, E, Brauers
openaire   +1 more source

Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype

Kidney International, 1998
Irfan Saadi, Xing-Zhen Chen, Matthias A Hediger   +2 more
exaly  

Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Kidney International, 2002
Thomas Eggermann
exaly  

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients

Human Mutation, 2001
exaly  

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs

Human Genetics, 2000
exaly  

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Human genetics, 2008
Luigi, Bisceglia, Lucia, Fischetti, Patrizia, De Bonis   +2 more
openaire   +3 more sources

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Proceedings of the National Academy of Sciences of the United States of America, 1995
exaly  

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

Journal of Medical Genetics, 2008
exaly  

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes

Clinical Genetics, 2005
exaly  

Cystinuria in south east European countries: mutations in SLC3A1 and SLC7A9 genes

2006
Baskin, E., Soylu, A., Miljkovic, P., Bogdanovic, R., Tasic, V., Popovska-Jankovic, K., Plaseska-Karanfilska, D., Efremov, G., Topaloglu, R., Akil, I.   +9 more
openaire   +1 more source