Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa

Human Molecular Genetics

Volumn 26, Issue 3, 2017, Pages 509-518

  Conley, Shannon M ^a   Stuck, Michael W ^a   Watson, Jamie N ^a   Naash, Muna I ^b  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF HOUSTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOCHEMICAL ANALYSIS; COMPLEX FORMATION; CONTROLLED STUDY; ELECTRORETINOGRAM; ENDOPLASMIC RETICULUM; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE; HAPLOINSUFFICIENCY; HETEROZYGOTE; IN VITRO STUDY; MOUSE; NONHUMAN; OLIGOMERIZATION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PRPH2 GENE; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA; ROM1 GENE; Y141C GENE; ANIMAL; BIOSYNTHESIS; CHEMISTRY; GENE EXPRESSION REGULATION; GENE TARGETING; GENETICS; HUMAN; MACULAR DEGENERATION; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PROTEIN MULTIMERIZATION; RETINA DEGENERATION; VERTEBRATE PHOTORECEPTOR CELL;

MULTIPROTEIN COMPLEX; PERIPHERIN; RDS PROTEIN, HUMAN; ROM1 PROTEIN, HUMAN; TETRASPANIN;

ANIMALS; ENDOPLASMIC RETICULUM; GENE EXPRESSION REGULATION; GENE KNOCK-IN TECHNIQUES; HUMANS; MACULAR DEGENERATION; MICE; MULTIPROTEIN COMPLEXES; MUTATION; PEDIGREE; PERIPHERINS; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; PROTEIN MULTIMERIZATION; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; TETRASPANINS;

EID: 85018238372     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw408     Document Type: Article

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