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@ARTICLE{Iannaccone:54920,
      author       = {Iannaccone, A. and Man, D. and Waseem, N. and Jennings, B.
                      J. and Ganapathiraju, M. and Gallaher, K. and Reese, E. and
                      Bhattacharya, S. S. and Klein-Seetharaman, J.},
      title        = {{R}etinitis {P}igmentosa {A}sssociated with {R}hodopsin
                      {M}utations: {C}orrelation between {P}henotypic
                      {V}ariability and {M}olecular {E}ffects.},
      journal      = {Vision research},
      volume       = {46},
      issn         = {0042-6989},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {PreJuSER-54920},
      pages        = {4556 - 4567},
      year         = {2006},
      note         = {Record converted from VDB: 12.11.2012},
      abstract     = {Similar retinitis pigmentosa (RP) phenotypes can result
                      from mutations affecting different rhodopsin regions, and
                      distinct amino acid substitutions can cause different RP
                      severity and progression rates. Specifically, both the R135L
                      and R135W mutations (cytoplasmic end of H3) result in
                      diffuse, severe disease (class A), but R135W causes more
                      severe and more rapidly progressive RP than R135L. The P180A
                      and G188R mutations (second intradiscal loop) exhibit a mild
                      phenotype with regional variability (class B1) and diffuse
                      disease of moderate severity (class B2), respectively.
                      Computational and in vitro studies of these mutants provide
                      molecular insights into this phenotypic variability.},
      keywords     = {Adolescent / Adult / Age Factors / Amino Acid Substitution
                      / Child / Child, Preschool / Computational Biology / DNA
                      Mutational Analysis / Disease Progression /
                      Electroretinography / Female / Humans / Male / Mutation /
                      Pedigree / Peptide Fragments: genetics / Phenotype /
                      Retinitis Pigmentosa: genetics / Retinitis Pigmentosa:
                      metabolism / Rhodopsin: genetics / Rhodopsin: metabolism /
                      Rod Cell Outer Segment: metabolism / Vision, Ocular /
                      Peptide Fragments (NLM Chemicals) / Rhodopsin (NLM
                      Chemicals) / J (WoSType)},
      cin          = {IBI-2},
      ddc          = {610},
      cid          = {I:(DE-Juel1)VDB58},
      pnm          = {Funktion und Dysfunktion des Nervensystems},
      pid          = {G:(DE-Juel1)FUEK409},
      shelfmark    = {Neurosciences / Ophthalmology},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:17014888},
      UT           = {WOS:000242674400015},
      doi          = {10.1016/j.visres.2006.08.018},
      url          = {https://juser.fz-juelich.de/record/54920},
}