Open AccessPropionic Academia: Exome Sequencing Identified Novel Mutation in Exon 12 of PCCA Gene
Author(s) -
Raziyeh Khalesi,
Masoud Garshasbi
Publication year - 2017
Publication title -
journal of medical cases
Language(s) - English
Resource type - Journals
eISSN - 1923-4163
pISSN - 1923-4155
DOI - 10.14740/jmc2743e
Subject(s) - propionic acidemia , genetics , exome sequencing , compound heterozygosity , exon , gene , mutation , mendelian inheritance , allele , medicine , biology