Diverse mutations in patients with Menkes disease often lead to exon skipping.

Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. Mutations were observed in 10 patients, and in each case a different mutation was present. All of...

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Hlavní autoři: Das, S., Levinson, B., Whitney, S., Vulpe, C., Packman, S., Gitschier, J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918324/
https://ncbi.nlm.nih.gov/pubmed/7977350
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