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Human Molecular Genetics, ISSN 0964-6906, 04/2010, Volume 19, Issue 13, pp. 2581 - 2593
The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an... 
OCULAR SUBRETINAL INJECTION | EARLY RETINAL DEGENERATION | CHILDHOOD BLINDNESS | ALPHA-SUBUNIT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | AUTOSOMAL RECESSIVE ACHROMATOPSIA | RPGR EXON ORF15 | ALASKAN MALAMUTE | RETINITIS-PIGMENTOSA | GATED CHANNEL | TOTAL COLOURBLINDNESS
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2017, Volume 58, Issue 2, pp. 821 - 832
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2017, Volume 58, Issue 2, pp. 1274 - 1282
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1366 - 1371
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2015, Volume 8, Issue 5, pp. 910 - 915
AIM: To identify the genetic defects in a Chinese family with achromatopsia.·METHODS: A 2.5-year-old boy, who displayed nystagmus, photophobia, and hyperopia... 
Achromatopsia | Missense mutation | Genetic analysis | CNGB3 MUTATIONS | ALPHA-SUBUNIT | achromatopsia | missense mutation | TOTAL COLOURBLINDNESS | genetic analysis | CONGENITAL ACHROMATOPSIA | MOUSE MODEL | OPHTHALMOLOGY | AUTOSOMAL RECESSIVE ACHROMATOPSIA | PROGRESSIVE LOSS | NUCLEOTIDE-GATED CHANNELS | CONE | PAKISTANI FAMILIES
Journal Article
Journal Article