AN ALPORT SYNDROME MUTATION IN MOUSE Col4a4 IDENTIFIED BY WHOLE GENOME SEQUENCING AND BULK SEGREGATION ANALYSIS
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منابع مشابه
Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis.
In a pedigree of C57BL/6J mice homozygous for germline mutations induced by the mutagen N-ethyl-N-nitrosourea (ENU), numerous animals died under specific pathogen-free (SPF) conditions between 6 and 7 months of age. Death was caused by nephritic syndrome, which progressed to renal failure associated with focal segmental glomerulosclerosis. To identify the mutation responsible for renal disease,...
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