Fine mapping of de novo CMT1A and HNPP rearrangements within CMTIA-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination
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چکیده
منابع مشابه
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.
Rearrangements in 17p11.2, responsible for the 1.5 Mb duplications and deletions associated, respectively, with autosomal dominant Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are a suitable model for studying human recombination. Rearrangements in 17p11.2 are caused by unequal crossing-over between two homologous 24 kb sequence...
متن کاملA de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy, most often associated with a deletion of the 17p11.2 region, which is duplicated in 70% of patients with Charcot-Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of paternal origin. A rare case of de novo HNPP of maternal origin was analysed to determine the underlying mec...
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چکیده ندارد.
15 صفحه اولClustering of Short Read Sequences for de novo Transcriptome Assembly
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from 1950s onward, new theories and critical approaches burgeoned across humanities. these theories were context-oriented; as a result, the analysis of discursive practices gained significance. thus, social, political, historical and cultural discourses that have been hitherto marginalized and considered inferior to literary texts, were introduced as important texts to be analyzed by critics. o...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1998
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/7.1.141