First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.
Biochem Biophys Res Commun
; 497(1): 93-101, 2018 02 26.
Article
in En
| MEDLINE
| ID: mdl-29421650
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA Mutational Analysis
/
Rett Syndrome
/
Genetic Predisposition to Disease
/
Mental Retardation, X-Linked
/
Methyl-CpG-Binding Protein 2
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Biochem Biophys Res Commun
Year:
2018
Document type:
Article