Autor: "Möller, C." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Autorzy:: Liu YP; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA.
Bosch DG; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.
Siemiatkowska AM; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.
Rendtorff ND; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark.
Boonstra FN; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.
Möller C; h Audiological Research Centre, Faculty of Medicine and Health , Örebro University , Örebro , Sweden.
Tranebjærg L; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark.
Katsanis N; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA.
Cremers FP; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2017 Mar-Apr; Vol. 38 (2), pp. 127-132. Date of Electronic Publication: 2016 Mar 30.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Predisposition to Disease*
Inheritance Patterns*
Eye Proteins/*genetics
Mutation/*genetics
Retinitis Pigmentosa/*genetics
Adult ; Animals ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Disease Models, Animal ; Embryo, Nonmammalian ; Exome/genetics ; Female ; Gene Silencing ; Heterozygote ; Humans ; Pedigree ; Retinitis Pigmentosa/pathology ; Rhodopsin/genetics ; Sequence Analysis, DNA ; Zebrafish/embryology ; Zebrafish Proteins/genetics