Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration


Autoria(s): Shu, X.H.; Luhmann, U.F.O.; Aleman, T.S.; Barker, S.E.; Lennon, Alan; Tulloch, B.; Chen, Mei; Xu, Heping; Jacobson, S.G.; Ali, Aziza Suliman; Wright, Andrew
Data(s)

16/11/2011

Resumo

A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterised a mouse

Formato

application/pdf

Identificador

http://pure.qub.ac.uk/portal/en/publications/characterisation-of-a-c1qtnf5-ser163arg-knockin-mouse-model-of-lateonset-retinal-macular-degeneration(6552f4e4-68aa-45d2-9d15-ef917b1ad93c).html

http://dx.doi.org/10.1371/journal.pone.0027433

http://pure.qub.ac.uk/ws/files/2829877/Characterisation_of_a_C1qtnf5_Ser163Arg_Knock_In_Mouse_Model_of_Late_Onset_Retinal_Macular_Degeneration.pdf

Idioma(s)

eng

Direitos

info:eu-repo/semantics/openAccess

Fonte

Shu , X H , Luhmann , U F O , Aleman , T S , Barker , S E , Lennon , A , Tulloch , B , Chen , M , Xu , H , Jacobson , S G , Ali , A S & Wright , A 2011 , ' Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration ' PLoS ONE , vol 6 , no. 11 , e27433 , pp. e27433 . DOI: 10.1371/journal.pone.0027433

Palavras-Chave #/dk/atira/pure/subjectarea/asjc/1100 #Agricultural and Biological Sciences(all) #/dk/atira/pure/subjectarea/asjc/1300 #Biochemistry, Genetics and Molecular Biology(all) #/dk/atira/pure/subjectarea/asjc/2700 #Medicine(all)
Tipo

article