Author: Maddalena Siragusa

0000000000193368

AUTHOR

Maddalena Siragusa

0000-0003-2236-1440

showing 1 related works from this author

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease

2016

This study identifies a novel spice site mutation in the ATP2A gene in a family with the Darier disease

gene ATP2A2 splicing site mutation Darier

researchProduct

PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
  - PE2_1Theory of fundamental interactions
  - PE2_2 Phenomenology of fundamental interactions
  - PE2_3Experimental particle physics with accelerators
  - PE2_4Experimental particle physics without accelerators
  - PE2_6Nuclear, hadron and heavy ion physics
  - PE2_8Gas and plasma physics
  - PE2_5Classical and quantum physics of gravitational interactions
  - PE2_7Nuclear and particle astrophysics
  - PE2_9 Electromagnetism
  - PE2_10Atomic, molecular physics
  - PE2_11Ultra-cold atoms and molecules
  - PE2_18Equilibrium and non-equilibrium statistical mechanics: steady states and dynamics
  - PE2_14Lasers, ultra-short lasers and laser physics
  - PE2_17Metrology and measurement
  - PE2_16Non-linear physics
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- PE1Mathematics
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  - PE1_16Discrete mathematics and combinatorics
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  - PE1_3Number theory
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  - PE3_1Structure of solids, material growth and characterisation
  - PE3_2Mechanical and acoustical properties of condensed matter, lattice dynamics
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  - PE3_6Macroscopic quantum phenomena, e.g. superconductivity, superfluidity, quantum Hall effect
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  - PE10_1Atmospheric chemistry, atmospheric composition, air pollution
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  - PE10_14Earth observations from space/remote sensing
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  - PE10_13Physical geography, geomorphology
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  - PE11_2Engineering of metals and alloys
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  - PE11_3Engineering of ceramics and glasses
  - PE11_4Engineering of polymers and plastics
  - PE11_5Engineering of composites and hybrid materials
  - PE11_6Engineering of carbon materials
  - PE11_7Engineering of metal oxides
  - PE11_8Engineering of alternative established or emergent materials
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  - PE11_10Soft materials engineering, e.g. gels, foams, colloids
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  - PE11_12Semi-conducting and magnetic materials engineering
  - PE11_13Metamaterials engineering
  - PE11_14Computational methods for materials engineering
LSLife Sciences
- LS1Molecules of Life: Biological Mechanisms, Structures and Functions
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  - LS1_10Synthetic biology
  - LS1_8Structural biology
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  - LS1_7Molecular biophysics, biomechanics, bioenergetics
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SHSocial Sciences and Humanities
- SH2Institutions, Governance and Legal Systems
  - SH2_1Political systems, governance
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