Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs

HIGHLIGHTS

• who: J. A. Jaffey from the Department Midwestern University have published the article: Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs, in the Journal: Scientific Reports Scientific Reports
• what: The first dog to be included in this study was the same dog previously analyzed by whole genome sequencing and reported to harbor two heterozygous missense variants in CYB5R3: Gly76Ser and u00adIle194Leu6. The authors characterize a cohort of 30 dogs with persistent methemoglobinemia with respect to clinical spectrum, biochemical derangements, and molecular defects as well as . . .
  

   

  

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