Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.
Ferreira, Marie-Céleste
Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome. [electronic resource] - Clinical biochemistry Dec 2015 - 1317-23 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1873-2933
10.1016/j.clinbiochem.2015.07.004 doi
Alleles
Biomarkers--metabolism
DNA Primers--chemical synthesis
Eukaryotic Initiation Factor-2B--genetics
Exons
Gene Expression
Genotype
Heterozygote
Homozygote
Humans
Leukoencephalopathies--diagnosis
Multiplex Polymerase Chain Reaction--methods
Mutation
Protein Subunits
Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome. [electronic resource] - Clinical biochemistry Dec 2015 - 1317-23 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1873-2933
10.1016/j.clinbiochem.2015.07.004 doi
Alleles
Biomarkers--metabolism
DNA Primers--chemical synthesis
Eukaryotic Initiation Factor-2B--genetics
Exons
Gene Expression
Genotype
Heterozygote
Homozygote
Humans
Leukoencephalopathies--diagnosis
Multiplex Polymerase Chain Reaction--methods
Mutation
Protein Subunits