Deletions of NF1 gene and exons detected by multiplex ligation‐dependent probe amplification

To estimate the contribution of single and multi‐exon NF1 gene copy‐number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high‐performance liquid chromatography or prote...

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Hlavní autoři: De Luca, A, Bottillo, I, Dasdia, M C, Morella, A, Lanari, V, Bernardini, L, Divona, L, Giustini, S, Sinibaldi, L, Novelli, A, Torrente, I, Schirinzi, A, Dallapiccola, B
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Mutation Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652822/
https://ncbi.nlm.nih.gov/pubmed/18055911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.053785
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