Article
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Molecular genetics and metabolism - 1 Sept 2017
Almannai Mohammed, Marom Ronit, Divin Kristian, Scaglia Fernando, Sutton V Reid, Craigen William J, Lee Brendan, Burrage Lindsay C, Graham Brett H
Abstract excerpt
INTRODUCTION: Cobalamin C disease is a multisystemic disease with variable manifestations and age of onset. Genotype-phenotype correlations are well-recognized in this disorder. Here, we present a large cohort of individuals with cobalamin C disease, several of whom are heterozygous for the c.482G>A pathogenic variant (p.Arg161Gln). We compared clinical characteristics of individuals with this pathogenic variant...
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