Projects per year
Abstract
Original language | English |
---|---|
Pages (from-to) | 1272-1276 |
Number of pages | 5 |
Journal | Nature Genetics |
Volume | 44 |
Issue number | 11 |
DOIs | |
Publication status | Published - Nov 2012 |
Keywords
- LOCUS
- EGFR
- MEMBRANE
- IDENTIFICATION
- ENDOCYTIC TRAFFICKING
- PROTEINS
- DESMOPLAKIN
- MUTATIONS
- GROWTH-FACTOR RECEPTOR
- OCCURS
Fingerprint
Dive into the research topics of 'Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma'. Together they form a unique fingerprint.Projects
- 2 Finished
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Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)
Barton, G., Campbell, P., Hickerson, R., Leigh, I., McLean, I. & Wyatt, P.
1/08/12 → 30/04/19
Project: Research
Research output
- 60 Citations
- 1 Meeting abstract
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Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Irvine, A. D., Nomura, T., McGrath, J. A., Munro, C. S. & McLean, W., Sept 2012, In: Journal of Investigative Dermatology. 132, p. S89-S89 1 p.Research output: Contribution to journal › Meeting abstract › peer-review
Press/Media
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Rare skin disease gene discovered
Elizabeth Pohler, Alan Irvine, Toshifumi Nomura, John A. McGrath, W. H. Irwin McLean, Neil Wilson, Frances J. D. Smith, Aileen Sandilands, Christian Cole, Alan Evans, Sara J. Brown & David R. Goudie
15/10/12
1 item of Media coverage
Press/Media: Research