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of 4
pro vyhledávání: '"Lotta Harnevik"'
Publikováno v:
Genetic Testing. 7:13-20
Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals. Three subtypes of cystinuria have been described (type I, II
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2275d82720b9da541fea2e00b99f99dd
https://doi.org/10.1089/109065703321560886
https://doi.org/10.1089/109065703321560886
Autor:
Erik Fjellstedt, Peter Söderkvist, Lotta Harnevik, Annette Molbaek, Torsten Denneberg, Hans-Göran Tiselius
Publikováno v:
Human Mutation. 18:516-525
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 b ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de116822534defe8d499af83ce5f96ba
https://doi.org/10.1002/humu.1228
https://doi.org/10.1002/humu.1228
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 17(7)
Cystinuria is a genetic disorder in the domestic dog that leads to recurrent urolith formation. The genetic basis of the disorder is best characterized in humans and is caused by mutations in one of the amino acid transporter genes SLC3A1 or SLC7A9,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af61148a8a17f7d7ab39fa03430dbc17
https://pubmed.ncbi.nlm.nih.gov/16845473
https://pubmed.ncbi.nlm.nih.gov/16845473
Autor:
Torsten Denneberg, Jan-Olof Jeppsson, Lotta Harnevik, Peter Söderkvist, Hans-Göran Tiselius, Erik Fjellstedt
Publikováno v:
Urological research. 31(6)
Advances in molecular genetics have brought a deeper understanding of cystinuria. This autosomal recessive disease, which is caused by a defective tubular reabsorption of cystine and the three dibasic amino acids arginine, lysine and ornithine, resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc9057c62d7c38dfb508a60a4899007
https://pubmed.ncbi.nlm.nih.gov/14586528
https://pubmed.ncbi.nlm.nih.gov/14586528