A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

  • Khalid Al-Thihli
  • , Nadia Al Hashmi
  • , Aaisha Al Balushi
  • , Asila Al-Habsi
  • , Eiman Al-Ajmi
  • , Fatma Al-Jasmi
  • , Fathiya Al-Murshedi

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology