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Proceedings of the National Academy of Sciences of the United States, ISSN 0027-8424, 08/2018, Volume 115, Issue 35, p. E8162
Mutational activation of epidermal growth factor receptor (EGFR) in human cancers involves both point mutations and complex mutations (insertions and... 
Gene mutations | Observations
Journal Article
Amino Acids, ISSN 0939-4451, 04/2019, Volume 51, Issue 4, p. 579
The eukaryotic [F.sub.1]F.sub.O-ATP synthase/hydrolase activity is coupled to H.sup.+ translocation through the inner mitochondrial membrane. According to a... 
Gene mutations | Analysis | Glutamate
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 10/2017, Volume 128, Issue 10, pp. e348 - e349
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.clinph.2017.06.117 Family... 
Gene mutations | Acoustic neuroma
Journal Article
Plant Physiology, ISSN 0032-0889, 02/2019, Volume 179, Issue 2, p. 770
Journal Article
Plant Physiology, ISSN 0032-0889, 02/2019, Volume 179, Issue 2, p. 770
Journal Article
Science, ISSN 0036-8075, 09/2018, Volume 361, Issue 6406, p. 988
Journal Article
Nature Reviews Neuroscience, ISSN 1471-003X, 07/2016, Volume 17, Issue 7, pp. 399 - 399
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, p. 2290
The article reports on a study to evaluate the mutation of genes that takes place in cases of patients with acute myeloid leukemia (AML). The results indicate... 
Gene mutations | Genomics | Research
Journal Article
01/2014
Objective: Cystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory (CFTR )... 
CFTR Gene Mutations | Cystic Fibrosis | Clinical Presentation
Web Resource
Neuromuscular Disorders, ISSN 0960-8966, 10/2013, Volume 23, Issue 9-10, pp. 750 - 751
In the last few years a number of therapeutical approaches have become available for patients affected by Duchenne muscular dystrophy (DMD). The majority of... 
Gene mutations
Journal Article
Brain Research, ISSN 0006-8993, 01/2014, Volume 1542, p. 1
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2017, Volume 13, Issue 7, pp. P1298 - P1298
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2015, Volume 11, Issue 8
Journal Article
Gene, ISSN 0378-1119, 02/2018, Volume 642, p. 51
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.gene.2017.11.016... 
Gene mutations | Cell death | Analysis
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue 12
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2017, Volume 127, Issue 7, p. 2805
Voltage-gated sodium channel ([Na.sub.v]) mutations cause genetic pain disorders that range from severe paroxysmal pain to a congenital inability to sense... 
Research | Gene mutations | Neurons | Analysis
Journal Article
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