Progress in molecular diagnosis of fragile X syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 296-299, 2012.
Article
in Zh
| WPRIM
| ID: wpr-295490
Responsible library:
WPRO
ABSTRACT
Fragile X mental retardation 1 is the gene underlying fragile X syndrome (FXS). Its product, fragile X mental retardation protein, is closely involved with development of brain and neurons. PCR and Southern blotting have been the major methods for laboratory diagnosis of FXS. In this article, the progress in the molecular diagnosis of FXS is reviewed.
Full text:
1
Database:
WPRIM
Main subject:
Diagnosis
/
Fragile X Mental Retardation Protein
/
Pathology, Molecular
/
Fragile X Syndrome
/
Genetics
/
Methods
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Document type:
Article