id:"swepub:oai:DiVA.org:liu-12855"
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03392naa a2200481 4500 | |
| 001 | oai:DiVA.org:liu-12855 | |
| 003 | SwePub | |
| 008 | 080213s2001 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:1941310 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-128552 URI |
| 024 | 7 | a https://doi.org/10.1002/humu.12282 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:19413102 URI |
| 040 | a (SwePub)liud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Harnevik, Lottau Linköpings universitet,Cellbiologi,Hälsouniversitetet4 aut0 (Swepub:liu)lotha65 |
| 245 | 1 0 | a Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients |
| 264 | c 2001-11-13 | |
| 264 | 1 | b Hindawi Limited,c 2001 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. The mutations detected in SLC3A1 tend to be population specific and have not been previously investigated in Sweden. We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing. We identified 12 novel mutations (a 2 bp deletion, one splice site mutation, and 10 missense mutations) and detected another three mutations that were previously reported. Five polymorphisms were also identified, four of which were formerly described. The most frequent mutation in this study was the previously reported M467T and it was also detected in the normal population with an allelic frequency of 0.5%. Thirty-seven patients were homozygous for mutations in the SLC3A1 gene and another seven were heterozygous which implies that other genes may be involved in cystinuria. Future investigation of the non-type I cystinuria gene SLC7A9 may complement our results but recent studies also suggest the presence of other potential disease genes. | |
| 653 | a cystinuria | |
| 653 | a CSNU | |
| 653 | a CNSU1 | |
| 653 | a CNSU3 | |
| 653 | a SLC3A1 | |
| 653 | a SLC7A9 | |
| 653 | a transporter | |
| 653 | a amino acid | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Fjellstedt, Eriku Department of Internal Medicine, Motala Hospital, Motala, Sweden4 aut |
| 700 | 1 | a Molbæk, Annetteu Linköpings universitet,Cellbiologi,Hälsouniversitetet4 aut0 (Swepub:liu)annmo91 |
| 700 | 1 | a Tiselius, Hans-Göranu Karolinska Institutet4 aut |
| 700 | 1 | a Denneberg, Torstenu Linköpings universitet,Urologi,Hälsouniversitetet4 aut |
| 700 | 1 | a Söderkvist, Peteru Linköpings universitet,Cellbiologi,Hälsouniversitetet4 aut0 (Swepub:liu)petso43 |
| 710 | 2 | a Linköpings universitetb Cellbiologi4 org |
| 773 | 0 | t Human Mutationd : Hindawi Limitedg 18:6, s. 516-525q 18:6<516-525x 1059-7794x 1098-1004 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-12855 |
| 856 | 4 8 | u https://doi.org/10.1002/humu.1228 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:1941310 |
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