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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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Autors principals: Das, S., Levinson, B., Whitney, S., Vulpe, C., Packman, S., Gitschier, J.
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918324/
https://ncbi.nlm.nih.gov/pubmed/7977350
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