A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.
Autor: | Mathew RP; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Manipal Academy of Higher Education, Manipal, India., Ranya Raghavendra P; KEM Hospital, Mumbai, India., Disha B; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Regional Centre for Biotechnology, Faridabad, India., Dalal A; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Govindaraj P; BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India. |
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Jazyk: | angličtina |
Zdroj: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63809. Date of Electronic Publication: 2024 Jul 01. |
DOI: | 10.1002/ajmg.a.63809 |
Abstrakt: | Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO (© 2024 Wiley Periodicals LLC.) |
Databáze: | MEDLINE |
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