Digenic Inheritance in Cystinuria Mouse Model: e0137277
Digenic Inheritance in Cystinuria Mouse Model: e0137277
About this item
Full title
Digenic Inheritance in Cystinuria Mouse Model: e0137277
Author / Creator
Journal title
PloS one, 2015-09, Vol.10 (9)
Language
English
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Scope and Contents
Contents
Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes...
Alternative Titles
Full title
Digenic Inheritance in Cystinuria Mouse Model: e0137277
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1732836153
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1732836153
Other Identifiers
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0137277
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