The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

The CMT1A-REPs are two large directly repeating DNA sequences located on chromosome 17p11.2-p12 flanking the region duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted in patients with hereditary neuropathy with liability to pressure palsies (HNPP). We have sequenced two cosmids, c74F4 and c15H12, which contain the entire proximal and distal CMT1A-REPs and determ...

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 1997

ISSN: 1460-2083

DOI: 10.1093/hmg/6.9.1595