A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.
Genome Biol
; 18(1): 144, 2017 07 28.
Article
in En
| MEDLINE
| ID: mdl-28754144
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Corneal Dystrophies, Hereditary
/
3' Untranslated Regions
/
Sodium-Bicarbonate Symporters
/
AU Rich Elements
/
Mutation
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Genome Biol
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2017
Document type:
Article
Affiliation country:
Saudi Arabia