Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previou...

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Autori principali: Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3032071/
https://ncbi.nlm.nih.gov/pubmed/20493460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.05.001
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