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Journal Article
Human Molecular Genetics, ISSN 0964-6906, 09/2000, Volume 9, Issue 14, pp. 2107 - 2116
Journal Article
Acta Theriologica Sinica, ISSN 1000-1050, 11/2018, Volume 38, Issue 6, pp. 525 - 534
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
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 240 - 247
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2005, Volume 13, Issue 3, pp. 302 - 308
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 08/2016, Volume 57, Issue 10, pp. 3984 - 3995
Journal Article
Journal Article