The most frequently deleted exon was exon 45 and the most frequent duplication involved exonsconfirming the presence of the two hotspot mutation regions reported in the literature.
Revista Romana de Medicina de Laborator
Mutations detected in our study hpv whole genome sequencing a slightly different location compared to literature data. Cel mai frecvent deletat exon hpv whole genome sequencing fost exonul 45 şi cea mai frecventă duplicaţie a implicat exoniiconfirmând prezenţa celor două regiuni critice mutaţionale raportate în literatură.
Mutaţiile detectate în studiul nostru au avut o localizare uşor diferită comparativ cu datele din literatură. Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
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Variantele genice ale Interleukinei 1β -511 C>T şi neoplazia intraepitelială cervicală
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- Since that time, new data have become available, these have been incorporated into the Monograph, and taken into consideration in the present evaluation.
- Variantele genice ale Interleukinei 1β C>T şi neoplazia intraepitelială cervicală
- Cancerul pulmonar contagios
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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
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Обе группы обменялись слегка натянутыми приветствиями.
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe hpv whole genome sequencing MLPA. N Engl J Med.