Milder clinical and biochemical phenotypes associated with...

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Molecular Genetics and Metabolism 2017 / 6

Milder clinical and biochemical phenotypes associated with the c.482G > A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening

Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.
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Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2017.06.011
Date:
June, 2017
File:
PDF, 790 KB
english, 2017
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