Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

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...

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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
Format: Article
Language:English
Published: BMC 2016-02-01
Series:Molecular Medicine
Online Access:http://link.springer.com/article/10.2119/molmed.2015.00254

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http://link.springer.com/article/10.2119/molmed.2015.00254

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