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- Title
Novel human pathological mutations.
- Abstract
The article presents information on the different human pathological mutations. Accordingly, there are several diseases are mentioned with their corresponding gene symbol. These include Dementia, with gene symbol of PRNP, by Zheng Liu and Jianping Jia, Junctional Epidermolysis Bullosa, with gene symbol of LAMA3, by Christiane Mühle Schneider, and Cystic Fibrosis, with gene symbol of CFTR, by Chantal Farra and team.
- Subjects
CYSTIC fibrosis; GENETIC disorders; NEUROBEHAVIORAL disorders; DEMENTIA; EPIDERMOLYSIS bullosa
- Publication
Human Genetics, 2007, Vol 122, Issue 5, p545
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-007-0423-2