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10.1007/s13730-017-0273-2

http://scihub22266oqcxt.onion/10.1007/s13730-017-0273-2
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C5694410!5694410!28856578
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suck abstract from ncbi


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pmid28856578      CEN+Case+Rep 2017 ; 6 (2): 189-93
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  • A case of mild phenotype Alport syndrome caused by COL4A3 mutations #MMPMID28856578
  • Kamijo M; Kitamura M; Muta K; Uramatsu T; Obata Y; Nozu K; Kaito H; Iijima K; Mukae H; Nishino T
  • CEN Case Rep 2017[Nov]; 6 (2): 189-93 PMID28856578show ga
  • In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the ?5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV collagen ?3 chain. These two gene mutations represented a new pattern of mutation and was suggested the association with an atypical ?5 chain expression and mild phenotype.
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