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10.1016/j.ymgme.2017.05.011

http://scihub22266oqcxt.onion/10.1016/j.ymgme.2017.05.011
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C5526210!5526210!28583326
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suck abstract from ncbi

pmid28583326      Mol+Genet+Metab 2017 ; 121 (3): 199-205
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  • Cystathionine ?-synthase Deficiency: Of Mice and Men #MMPMID28583326
  • Kruger WD
  • Mol Genet Metab 2017[Jul]; 121 (3): 199-205 PMID28583326show ga
  • Cystathionine ?-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60 years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. To try and answer these questions, several groups have developed mouse models on CBS deficiency. In this article, we will review various mouse models of CBS deficiency and discuss how these mouse models compare to human CBS deficient patients.
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