CRISPR/Cas9 engineering of albino cystinuria Type A mice

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A mouse model for cystinuria type I.

Cystinuria, one of the most common inborn errors of metabolism in humans, accounts for 1-2% of all cases of renal lithiasis. It is caused by defects in the heterodimeric transporter system rBAT/b0,+AT, which lead to reduced reabsorption of cystine and dibasic amino acids through the epithelial cells of the renal tubules and the intestine. In an N-ethyl-N-nitrosourea mutagenesis screen for reces...

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An Animal Model of Type A Cystinuria Due to Spontaneous Mutation in 129S2/SvPasCrl Mice

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ژورنال

عنوان ژورنال: genesis

سال: 2020

ISSN: 1526-954X,1526-968X

DOI: 10.1002/dvg.23357