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:C0026986 (
myelodysplastic syndrome
)
14,926
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Although mutations of the p53 tumour-suppressor gene have been observed occasionally in the advanced stages of
myelodysplastic syndromes
(
MDS
), they have not been detected in early refractory anaemia (RA) or RA with ring sideroblasts phases. Using single-strand conformation polymorphism analysis and direct sequencing, we searched for p53 mutations in a patient who progressed from RA to overt leukaemia. A p53 mutation at codon 249 (
AGG
to ATG) was observed in RA, RA with excess of blasts in transformation and overt leukaemia. We describe a case of
MDS
with p53 mutation at codon 249 detected in the RA phase.
...
PMID:A case of refractory anaemia with p53 point mutation at codon 249 (AGG to ATG). 861 74
