Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G & gt;A variant of MMUT prevalent in the Henan population

CONCLUSION: The rare variant c.1663G>A is prevalent in the Henan population, and infants with this variant tend to have good prognosis. Our findings, especially novel variants, will help broaden the spectrum of genetic variants and facilitate clinical diagnosis and genetic counselling for affected families.PMID:38128819 | DOI:10.1016/j.cca.2023.117729
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Source Type: research