Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics
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| Veröffentlicht in: | Human mutation 2000-04, Vol.15 (4), p.390-390 |
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| container_end_page | 390 |
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| container_title | Human mutation |
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| creator | Gitomer, William L. Reed, Berenice Y. Pak, Charles Y.C. |
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| doi_str_mv | 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU33>3.0.CO;2-K |
| format | Article |
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| issn | 1059-7794 1098-1004 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Amino Acid Substitution - genetics Amino Acid Transport Systems, Basic Asparagine - genetics Carrier Proteins - genetics Cysteine - genetics Cysteine - urine Cystinuria - genetics Female Genes, Recessive Homozygote Humans Male Membrane Glycoproteins - genetics Mutation, Missense - genetics Point Mutation - genetics Sequence Deletion - genetics SLC3A1 Space life sciences Threonine - genetics type I cystinuria Valine - genetics |
| title | Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics |
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