The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vi...
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Citrin deficiency (CD), a disorder caused by mutations in the SLC25A13 gene, may result in neonatal intrahepatic cholestasis. This study was purposely to explore the mutation spectrum of SLC25A13 gene in Vietnamese CD patients.
The 292 unrelated CD patients were first screened for four high-frequency mutations by PCR/PCR-RFLP. Then, Sanger seque...
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Full title
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
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TN_cdi_proquest_miscellaneous_2761179028
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2761179028
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-022-01112-2
