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(Q46801861)

English

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

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title
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation (English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18204299
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18204299%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 January 2020
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