ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes. In one family, four males aged 2–36 years with a distinctive Menkes variant have a mutation at the +3 position of a splice donor ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/ng1094-195
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