Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Carbonic Anhydrase Va Deficiency[original query] |
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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency. JIMD reports 2024 7 65 (4): 226-232. Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al-Habsi, Eiman Al-Ajmi, Fatma Al-Jasmi, Fathiya Al-Murshe |
- Page last reviewed:Feb 1, 2024
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