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Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

08:00 EDT 21st March 2020 | BioPortfolio

Summary of "Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis."

Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia. Early screening and diagnosis are important. The mutation spectrum of the MMACHC gene causing cblC varies among populations. The mutation spectrum in Chinese population is notably different from that in other populations.

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This article was published in the following journal.

Name: Molecular genetics & genomic medicine
ISSN: 2324-9269
Pages: e1221

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