article_metadata: Fatemeh Keyfi Mohammad Reza Abbaszadegan Arndt Rolfs Slobodanka Orolicki Morteza Moghaddassian Abdolreza Varasteh
article_metadata: 10.1186/s11658-016-0005-1
article_metadata: Cell Mol Biol Lett
article_metadata: 2016 Jul 28;21:4.
article_metadata: biochemical analysis cobalamin mmaa gene methylmalonic acidemia mutation analysis novel deletion structural analysis vitamin b12
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/28536607/
article_metadata: Amino Acid Metabolism, Inborn Errors / enzymology Frameshift Mutation INDEL Mutation Mitochondrial Membrane Transport Proteins / genetics
article_metadata: Amino Acid Metabolism, Inborn Errors / enzymology Frameshift Mutation INDEL Mutation Mitochondrial Membrane Transport Proteins / genetics Case Reports Amino Acid Metabolism, Inborn Errors / genetics Base Sequence Child, Preschool Female Humans Infant Iran Male Mitochondrial Membrane Transport Proteins / metabolism Pedigree Protein Structure, Tertiary Siblings Vitamin B 12 MMAA protein, human Mitochondrial Membrane Transport Proteins Vitamin B 12 Methylmalonic acidemia
article_metadata: PMC5415723
article_metadata: 28536607
article_metadata: Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia
article_metadata: 2016