Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Wortham, Noel C ^a   Proud, Christopher G ^a,b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SOUTH AUSTRALIAN HEALTH AND MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

CACH; eIF2B; EIF2B1; Leukodystrophy; VWM

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; INITIATION FACTOR; INITIATION FACTOR 2; INITIATION FACTOR 2B SUBUNIT 1; UNCLASSIFIED DRUG; PROTEIN BINDING; PROTEIN SUBUNIT;

AFFINITY CHROMATOGRAPHY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING AFFINITY; CELL LYSATE; COMPLEX FORMATION; CONTROLLED STUDY; EIF2B1 GENE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HEK293 CELL LINE; HUMAN; HUMAN CELL; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN FUNCTION; VANISHING WHITE MATTER DISEASE; WESTERN BLOTTING; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; LEUKOENCEPHALOPATHY; MUTATION; PLASMID; PROTEIN SUBUNIT; SITE DIRECTED MUTAGENESIS;

EUKARYOTA;

BLOTTING, WESTERN; CHROMATOGRAPHY, AFFINITY; EUKARYOTIC INITIATION FACTOR-2B; HEK293 CELLS; HUMANS; LEUKOENCEPHALOPATHIES; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION; PLASMIDS; PROTEIN BINDING; PROTEIN SUBUNITS;

EID: 84939552339     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0204-z     Document Type: Article

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