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Milenkovic, Andrea ; Schmied, Denise ; Tanimoto, Naoyuki ; Seeliger, Mathias W. ; Sparrow, Janet R. ; Weber, Bernhard H. F.

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

Article

Milenkovic, Andrea, Schmied, Denise, Tanimoto, Naoyuki, Seeliger, Mathias W., Sparrow, Janet R. and Weber, Bernhard H. F. (2019) The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. Biology Open.



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Details

Item typeArticle
Journal or Publication TitleBiology Open
PublisherCOMPANY BIOLOGISTS LTD
Place of PublicationCAMBRIDGE
Date2019
Date of publication03 Sep 2021 09:58
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1242/bio.041335DOI
KeywordsBEST-DISEASE; MISSENSE MUTATIONS; GENE; CHANNELS; VMD2; BISRETINOIDS; RETINA; MICE; MONOUBIQUITINATION; LOCALIZATION; Bestrophin-1; BEST1; Vitelliform macular dystrophy; Protein stability; Sperm motility; Best1(Y227N) knock-in mouse
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID48488

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