Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies
Abstract Methionine adenosyltransferase (MAT) I/III deficiency can be Inherited as autosomal dominant (AD) or as recessive (AR) traits in which mono- or biallelic MAT1A mutations have been identified, respectively. Although most patients have benign clinical outcomes, some with the AR form have neur...
Main Authors: | Yoo-Mi Kim, Ja Hye Kim, Jin-Ho Choi, Gu-Hwan Kim, Jae-Min Kim, Minji Kang, In-Hee Choi, Chong Kun Cheon, Young Bae Sohn, Marco Maccarana, Han-Wook Yoo, Beom Hee Lee |
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Format: | Article |
Language: | English |
Published: |
BMC
2016-02-01
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Series: | Molecular Medicine |
Online Access: | http://link.springer.com/article/10.2119/molmed.2015.00254 |
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