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

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 neurological...

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Bibliografiske detaljer
Udgivet i:Mol Med
Main Authors: Kim, Yoo-Mi, Kim, Ja Hye, Choi, Jin-Ho, Kim, Gu-Hwan, Kim, Jae-Min, Kang, Minji, Choi, In-Hee, Cheon, Chong Kun, Sohn, Young Bae, Maccarana, Marco, Yoo, Han-Wook, Lee, Beom Hee
Format: Artigo
Sprog:Inglês
Udgivet: Feinstein Institute for Medical Research 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004716/
https://ncbi.nlm.nih.gov/pubmed/26933843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2015.00254
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