Atıf İçin Kopyala
Ulgenalp A., Giray Ö., Bora E., Hizli T., Kurul S., Sagin-Saylam G., ...Daha Fazla
TURKISH JOURNAL OF PEDIATRICS, cilt.46, sa.4, ss.333-338, 2004 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
46
Sayı:
4
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Basım Tarihi:
2004
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Dergi Adı:
TURKISH JOURNAL OF PEDIATRICS
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.333-338
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Anahtar Kelimeler:
dystrophinopathy, deletion analysis, clinical correlation, gene promoter mutation, MOLECULAR CHARACTERIZATION, DILATED CARDIOMYOPATHY, TURKISH DUCHENNE, GENE DELETIONS, DNA ANALYSIS, DIAGNOSIS, TRANSLOCATION, PATTERNS, FAMILIES, PROMOTER
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Dokuz Eylül Üniversitesi Adresli:
Evet
Özet
We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.