Results 161 to 170 of about 1,500 (175)

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

Human mutation, 2002
Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated with mutations in the amino acid transporter gene SLC3A1.
L, Harnevik, E, Fjellstedt, A, Molbaek, H G, Tiselius, T, Denneberg, P, Söderkvist   +5 more
openaire   +1 more source

Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability

Urolithiasis, 2023
Soo-Youn Lee, Deok Hyun Han, Hyung-Doo Park   +2 more
exaly  

Tissue distribution, hormonal regulation, ontogeny, diurnal expression, and induction of mouse cystine transporters Slc3a1 and Slc7a9

Free Radical Research, 2020
Scott Reisman, Curtis D Klaassen, Kai Connie Wu   +2 more
exaly  

Gene symbol: SLC3A1.

Human genetics, 2007
L, Bisceglia, M, Di Perna
openaire   +1 more source

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria

Urological Research, 2004
Thomas Eggermann, Zerres Klaus, Hesse Albrecht   +2 more
exaly  

Molecular Genetic Analysis of SLC3A1 and SLC7A9 Genes in Czech and Slovak Cystinuric Patients

Annals of Human Genetics, 2005
Sylvie Stastna, Jan Vaclavik
exaly  

Detection of two novel large deletions inSLC3A1 by semi-quantitative fluorescent multiplex PCR

Human Mutation, 2000
Luigi Bisceglia, Paolo Gasparini, Virginia Nunes   +2 more
exaly  

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

Human Genetics, 2000
Margrét Casal, Urs Giger, P S Henthorn   +2 more
exaly  

Slc3a1-knockout mouse as a natural model of bladder outlet obstruction

Journal of the American College of Surgeons, 2009
Philip T. Zhao, Dohyoon Cha, Michael May, Joseph G. Barone, Andrew P. Evan, Sharon Bledsoe, Jay A. Tischfield, Amrik Sahota   +7 more
openaire   +1 more source

Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0546.

Human genetics, 2007
Eva, Brauers, Thomas, Eggermann
openaire   +1 more source