A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

Authors

Rohan Mathew

Published

July 1, 2024

Abstract

Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO

Supporters

Support the authors with ResearchCoin

Journal

American Journal of Medical Genetics Part A

Topics

Ornithine Transcarbamylase

DOI

10.1002/ajmg.a.63809

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

Authors

Rohan Mathew

Published

July 1, 2024

Abstract

Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO

Supporters

Support the authors with ResearchCoin

Journal

American Journal of Medical Genetics Part A

Topics

Ornithine Transcarbamylase

DOI

10.1002/ajmg.a.63809

Paper

Paper

Paper

Paper

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

Abstract

Supporters

Journal

Topics

DOI

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

Abstract

Supporters

Journal

Topics

DOI