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JAMA OPHTHALMOLOGY, ISSN 2168-6165, 02/2015, Volume 133, Issue 2, pp. 133 - 139
IMPORTANCE The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently... 
OPHTHALMOLOGY | MUTATIONS | RETINITIS-PIGMENTOSA | GTPASE | ABCR
Journal Article
SCIENCE TRANSLATIONAL MEDICINE, ISSN 1946-6234, 05/2019, Volume 11, Issue 492, p. eaav4523
Retinal gene therapy with adeno-associated viral (AAV) vectors holds promises for treating inherited and noninherited diseases of the eye. Although clinical... 
MEDICINE, RESEARCH & EXPERIMENTAL | AAV | DISEASE | GENE-THERAPY | NPU DNAE INTEIN | EXPRESSION | ABCR | VECTORS EXPAND | DELIVERY | CELL BIOLOGY
Journal Article
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 11/2009, Volume 284, Issue 47, pp. 32670 - 32679
P-4-ATPases comprise a relatively new subfamily of P-type ATPases implicated in the energy-dependent translocation of aminophospholipids across cell membranes.... 
LIPID ASYMMETRY | RIM PROTEIN | P-TYPE ATPASE | OUTER SEGMENT DISK | BOVINE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DRS2P | AMINOPHOSPHOLIPID TRANSLOCASE | PLASMA-MEMBRANE | ABCR | GLYCOPROTEIN MULTIDRUG TRANSPORTER
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2016, Volume 134, Issue 5, pp. 580 - 583
IMPORTANCE: Stargardt disease is a phenotypically diverse macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4. Pseudodominant... 
OPHTHALMOLOGY | MUTATIONS | TRANSPORTER GENE | ABCR | Macular degeneration | Phenotype | Genetic aspects | Research | Gene mutations | Risk factors
Journal Article
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 07/2005, Volume 115, Issue 7, pp. 1777 - 1784
Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI... 
MEDICINE, RESEARCH & EXPERIMENTAL | TANGIER-DISEASE | PROTEIN | CHOLESTEROL | DENSITY-LIPOPROTEIN DEFICIENCY | LAMELLAR GRANULES | AMNIOTIC-FLUID CELLS | IDENTIFICATION | ABCR | PRENATAL-DIAGNOSIS | STARGARDT-DISEASE
Journal Article
Nature Communications, ISSN 2041-1723, 2012, Volume 3, Issue 1, pp. 925 - 925
Journal Article
Cell, ISSN 0092-8674, 1999, Volume 98, Issue 1, pp. 13 - 23
Journal Article
Journal Article
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, ISSN 1388-1981, 03/2013, Volume 1831, Issue 3, pp. 555 - 574
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576