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:C0002871 (
anemia
)
52,094
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Diamond-Blackfan anemia (DBA) is an inherited
anemia
with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding
60S ribosomal protein L5
(
RPL5
). Considering previously reported cases together with our patient, we suggest that
RPL5
haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations.
...
PMID:Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing
RPL5
. 3164 74
