Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P01034 (
cystatin C
)
3,397
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of
EIF2B5
gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->
CAA
in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.
...
PMID:Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. 1686 40
