Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15-20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecu...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |