Case report: identi cation of a rare nonsense mutation in the poc1a gene by ngs in a diabetes mellitus patient

HIGHLIGHTS

• who: . and collaborators from the Cleveland Clinic, United States al-Qura University, Saudi Arabia have published the research: Case Report: Identi cation of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient, in the Journal: (JOURNAL) of 15/08/2020
• what: This study investigated a 32-year-old patient with a rare POC1A gene mutation resulting in a type of diabetes_mellitus, for which a detailed clinical diagnosis and molecular biological analysis were performed.
• how: The patient`s insulin and connecting peptide (C-peptide) release test results are . . .
  

   

  

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