Atıf İçin Kopyala
OKAMOTO Y., Goksungur M. T., Pehlivan D., BECK C. R., GONZAGA-JAUREGUI C., MUZNY D. M., ...Daha Fazla
GENETICS IN MEDICINE, cilt.16, sa.5, ss.386-394, 2014 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
16
Sayı:
5
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Basım Tarihi:
2014
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Doi Numarası:
10.1038/gim.2013.155
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Dergi Adı:
GENETICS IN MEDICINE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.386-394
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Anahtar Kelimeler:
autosomal recessive, Charcot-Marie-Tooth disease, CMT4D, CNV, NDRG1, MARIE-TOOTH-DISEASE, SENSORY NEUROPATHY, HEREDITARY MOTOR, DEMYELINATING NEUROPATHY, GENOMIC REARRANGEMENTS, MUTATION, GENE, LOM, MECHANISM, FREQUENCY
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İstanbul Üniversitesi Adresli:
Evet
Özet
Purpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMTIA neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive CMT disease has not been associated with copy-number Variation as a mutational mechanism.