Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
نویسندگان
چکیده
منابع مشابه
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
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-R...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1996
ISSN: 1460-2083
DOI: 10.1093/hmg/5.6.745