Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Article
in En
| MEDLINE
| ID: mdl-32554502
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cataract
/
Nuclear Proteins
/
Cell Cycle Proteins
/
Ribonucleoproteins, Small Nucleolar
/
Enterocolitis
/
Hearing Loss, Sensorineural
/
Nephrotic Syndrome
Type of study:
Etiology_studies
Limits:
Animals
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Proc Natl Acad Sci U S A
Year:
2020
Document type:
Article
Affiliation country:
Country of publication: