Identification of Exonic Copy Number Variations in Dystrophin Gene Using Mlpa / Identificarea Variaţiilor Numărului de Copii în Gena Distrofinei Folosind Metoda Mlpa

Identification of Exonic Copy Number Variations in Dystrophin Gene Using Mlpa / Identificarea Variaţiilor Numărului de Copii în Gena Distrofinei Folosind Metoda Mlpa

Distrofiile musculare Duchenne şi Becker (DMD/BMD) sunt boli musculare progresive legate de X determinate de mutaţii în gena distrofinei (DMD). Multiplex Ligation - Dependent Probe Amplification (MLPA) este o metodă simplă, necostisitoare şi precisă pentru diagnosticul molecular al mutaţiilor genei...

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Bibliographic Details
Main Authors:	Rusu Cristina, Sireteanu Adriana, Butnariu Lăcrămioara, Pânzaru Monica, Braha Elena, Mihăilă Doina, Popescu Roxana
Format:	Article
Language:	English
Published:	Sciendo 2014-12-01
Series:	Romanian Journal of Laboratory Medicine
Subjects:	duchenne and becker muscular dystrophies;dystrophin;mlpa;deletions/duplications distrofii musculare duchenne şi becker;distrofină;mlpa;deleţii/duplicaţii
Online Access:	https://doi.org/10.2478/rrlm-2014-0038

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