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: UMLS:C0043346 (
xeroderma pigmentosum
)
2,924
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report that a subject with Cockayne syndrome type A (CS3BE) was a compound heterozygote for mutations in
CKN1
, the gene encoding the
CSA protein
(MIM 216400). CS3BE displayed a novel missense mutation (A160V) and a previously described nonsense mutation (E13X). Although residing between the second and third WD-40 repeats characteristic of the
CSA protein
, A160 is completely conserved in all species that possess a
CKN1
homologue. We also describe a mutation in a previously uncharacterised
xeroderma pigmentosum
group C subject (XP8CA) in the XPC gene (MIM 278720). XP8CA was homozygous for a 2 bp TG deletion in codon 547 resulting in premature termination at codon 572. Immunoblotting of XP8CA extracts confirmed the absence of full-length XPC protein that was present in unaffected cell lines.
...
PMID:Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 1574 58
