Fatemeh Keyfi Mohammad Reza Abbaszadegan Arndt Rolfs Slobodanka Orolicki Morteza Moghaddassian Abdolreza Varasteh
10.1186/s11658-016-0005-1
Cell Mol Biol Lett
2016 Jul 28;21:4.
biochemical analysis cobalamin mmaa gene methylmalonic acidemia mutation analysis novel deletion structural analysis vitamin b12
CC BY
https://pubmed.ncbi.nlm.nih.gov/28536607/
Amino Acid Metabolism, Inborn Errors / enzymology Frameshift Mutation INDEL Mutation Mitochondrial Membrane Transport Proteins / genetics
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
PMC5415723
28536607
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia
2016