Detection of tandem duplications and implications for linkage analysis.

The first demonstration of an autosomal dominant human disease caused by segmental trisomy came in 1991 for Charcot-Marie-Tooth disease type 1A (CMT1A). For this disorder, the segmental trisomy is due to a large tandem duplication of 1.5 Mb of DNA located on chromosome 17p11.2-p12. The search for th...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Matise, T. C., Chakravarti, A., Patel, P. I., Lupski, J. R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D. E.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 1994
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918201/
https://ncbi.nlm.nih.gov/pubmed/8198134
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