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Fundus albipunctatus associated with compound heterozygous mutations in RPE65. / Schatz, Patrik; Preising, Markus; Lorenz, Birgit; Sander, Birgit; Larsen, Michael; Rosenberg, Thomas.
In:
Ophthalmology, Vol. 118, No. 5, 2011, p. 888-94.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Schatz, P, Preising, M, Lorenz, B, Sander, B
, Larsen, M & Rosenberg, T 2011, '
Fundus albipunctatus associated with compound heterozygous mutations in RPE65',
Ophthalmology, vol. 118, no. 5, pp. 888-94.
https://doi.org/10.1016/j.ophtha.2010.09.005APA
Schatz, P., Preising, M., Lorenz, B., Sander, B.
, Larsen, M., & Rosenberg, T. (2011).
Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Ophthalmology,
118(5), 888-94.
https://doi.org/10.1016/j.ophtha.2010.09.005Vancouver
Schatz P, Preising M, Lorenz B, Sander B
, Larsen M, Rosenberg T.
Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Ophthalmology. 2011;118(5):888-94.
https://doi.org/10.1016/j.ophtha.2010.09.005Author
Schatz, Patrik ; Preising, Markus ; Lorenz, Birgit ; Sander, Birgit ; Larsen, Michael ; Rosenberg, Thomas. / Fundus albipunctatus associated with compound heterozygous mutations in RPE65. In: Ophthalmology. 2011 ; Vol. 118, No. 5. pp. 888-94.
Bibtex
@article{6fe574f7feb24f31b8c928b65f84ba83,
title = "Fundus albipunctatus associated with compound heterozygous mutations in RPE65",
abstract = "To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.",
author = "Patrik Schatz and Markus Preising and Birgit Lorenz and Birgit Sander and Michael Larsen and Thomas Rosenberg",
note = "Copyright {\textcopyright} 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.",
year = "2011",
doi = "http://dx.doi.org/10.1016/j.ophtha.2010.09.005",
language = "English",
volume = "118",
pages = "888--94",
journal = "Ophthalmology",
issn = "0161-6420",
publisher = "Elsevier",
number = "5",
}
RIS
TY - JOUR
T1 - Fundus albipunctatus associated with compound heterozygous mutations in RPE65
AU - Schatz, Patrik
AU - Preising, Markus
AU - Lorenz, Birgit
AU - Sander, Birgit
AU - Larsen, Michael
AU - Rosenberg, Thomas
N1 - Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
PY - 2011
Y1 - 2011
N2 - To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.
AB - To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.
U2 - http://dx.doi.org/10.1016/j.ophtha.2010.09.005
DO - http://dx.doi.org/10.1016/j.ophtha.2010.09.005
M3 - Journal article
VL - 118
SP - 888
EP - 894
JO - Ophthalmology
JF - Ophthalmology
SN - 0161-6420
IS - 5
ER -
