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Identification Of A Novel Homozygous Intron 3 Splice Site (A>T) Mutation In The ARG1 Gene In Cerebral Palsy Pediatric Cases From Odisha, India

2022-03-07

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<title>Abstract</title> <p><bold>Background: </bold>Arginases are essential for the completion of the last step of the urea cycle. In hyperarginemia, an autosomal recessive disorder of the urea cycle, a regression of development occurs after the first year of life, followed by gradually progressive atonic cerebral palsy, spastic quadriplegia, and mental decline. ARG1 mutations have been reported in hyperarginemia...

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Literature Corpus work
33ef0638-3424-52f8-89a6-483397c420a4
DOI
10.21203/rs.3.rs-1402624/v1
Open publication

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Identification Of A Novel Homozygous Intron 3 Splice Site (A&gt;T) Mutation In The ARG1 Gene In Cerebral Palsy Pediatric Cases From Odisha, IndiaDOI 10.21203/rs.3.rs-1402624/v1
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