Investigating one case of deletion of 27 exons espanding at rod domain of dystrophin gene in a Duchenne Muscular Dystrophy
Journal of Vietnamese Medicine
;
: 23-28, 2005.
Article
Dans Vietnamien
| WPRIM
| ID: wpr-4479
ABSTRACT
A majority deletion of 27 exons expanding from 8-34 at rod domain of dystrophic gene was identified in a Duchene Muscular Dystrophy (DMD) patients. Polymerase chain reaction (PCR) was used to analyze the deletion. The deletion caused an out of frame mutation leading to nonsense mutation which early stops code in exon 35 of dystrophic gene. The DMD gene was analyzed at both genomic DNA and mRNA levels. Identification of deletion at mRNA level is very useful for rapid diagnosis of DMD patients and avoid missing some mutations that we can’t identify at DNA level
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Dystrophine
/
Myopathie de Duchenne
/
Gènes
langue:
Vietnamien
Texte intégral:
Journal of Vietnamese Medicine
Année:
2005
Type:
Article
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