Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.

@article{Kiyosawa1996PrimateOO,
  title={Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.},
  author={Hidenori Kiyosawa and Phillip F. Chance},
  journal={Human molecular genetics},
  year={1996},
  volume={5 6},
  pages={745-53}
}
The CMT1A-REP repeat on chromosome 17p11.2-12 is proposed to mediate misalignment and meiotic unequal crossover leading to a 1.5 Mb pair duplication associated with Charcot-Marie-Tooth neuropathy type 1A (CMT1A) and a reciprocal deletion associated with hereditary neuropathy with liability to pressure palsies (HNPP). Restriction enzyme endonuclease mapping indicated that the size of the CMT1A-REP repeat is approximately 24 kb and DNA sequence analysis determined that the repeat is flanked by… CONTINUE READING
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Inherited recurrent focal neuropathies

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