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A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020-08-25

Abstract excerpt

<title>Abstract</title> <p>Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mu...

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Literature Corpus work
a8de7d44-2c63-5107-a4e8-e47161b4f4c4
DOI
10.21203/rs.3.rs-26974/v3
Open publication

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A rare mutation c.1663G&gt;A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patientsDOI 10.21203/rs.3.rs-26974/v3
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