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:C0039730 (
thalassemia
)
10,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A new beta(0)
thalassemia
allele caused by a
TGAT
insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0)
thalassemia
/ Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.
...
PMID:A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia. 1626 11
