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Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Sporadic cases of CMT have been described since the earliest reports of the disease. The most frequent form of the disorder, CMT1A, is associated with a 1.5-Mb DNA duplication on chromosome 17p11.2, which segregate...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Blair, I. P., Nash, J., Gordon, M. J., Nicholson, G. A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1996
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914557/
https://ncbi.nlm.nih.gov/pubmed/8644705
Etiketak: Etiketa erantsi
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