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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2637 - 2645
Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a genetically heterogeneous disease because mutations in over 40 genes... 
eye diseases | hereditary | cataract | crystallin | CONVERSION MUTATION | VARIANTS | CRYBB2 | CHINESE FAMILY | IDENTIFICATION | CRYGC | DOMINANT CERULEAN CATARACT | GENETICS & HEREDITY | PEDIATRIC CATARACT | NONSENSE MUTATION | Crystallin | Next-generation sequencing | Congenital diseases | Blindness | Children | Diagnosis | Mutation | Deoxyribonucleic acid--DNA | EphA2 protein | Genetic screening
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 04/2016, Volume 37, Issue 4, pp. 371 - 384
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0126679 - e0126679
Congenital cataracts are major cause of visual impairment and blindness in children and previous studies have shown about 1/3 of non-syndromic congenital... 
UNDERLIES | AUTOSOMAL-DOMINANT CATARACT | LENS CATARACT | AQUAPORIN 0 | MULTIDISCIPLINARY SCIENCES | MAJOR INTRINSIC PROTEIN | CELL-ADHESION | NUCLEAR CATARACT | AQP0 | IMPAIRMENT | Haplotypes | Humans | Middle Aged | Male | Aquaporins - genetics | Mutation, Missense - genetics | China | HEK293 Cells | Female | Blindness - congenital | Cell Membrane - metabolism | Eye Proteins - genetics | Genetic Linkage | Protein Structure, Tertiary | Amino Acid Sequence | Lens, Crystalline - metabolism | Blindness - genetics | Protein Transport - genetics | Microsatellite Repeats - genetics | Asian Continental Ancestry Group | Sequence Alignment | Cataract - congenital | Fluorescent Antibody Technique | Cell Line, Tumor | Amino Acid Substitution - genetics | Cataract - genetics | HeLa Cells | Development and progression | Cataract | Genetic aspects | Genetic disorders | Diagnosis | Gene mutations | Cataracts | Plasma | Transparency | Laboratories | Trafficking | Genes | Data bases | Defects | Proteins | Lysates | Histidine | Missense mutation | MIP gene | Aspartic acid | Children | Deoxyribonucleic acid--DNA | Linkage analysis | Visually handicapped people | Microsatellites | Congenital diseases | Aquaporins | Cortex | Functional analysis | Permeability | Golgi apparatus | Medicine | Genetic markers | Hospitals | Plasmids | Blindness | Structural damage | Point mutation | Mutation | Genetic testing | Immunofluorescence | Cytoplasm | Structure-function relationships | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Current Eye Research, ISSN 0271-3683, 03/2018, Volume 43, Issue 3, pp. 304 - 307
Journal Article
by Wu, ZH and Meng, DL and Fang, CB and Li, J and Zheng, XJ and Lin, JS and Zeng, HJ and Lv, SH and Zhang, ZN and Luan, B and Zhong, ZL and Chen, JJ
MOLECULAR MEDICINE REPORTS, ISSN 1791-2997, 04/2019, Volume 19, Issue 4, pp. 3123 - 3131
Journal Article
Journal Article
Guoji Yanke Zazhi, ISSN 1672-5123, 08/2019, Volume 19, Issue 8, pp. 1396 - 1399
AIM: To identify the potential mutation in a Chinese family affected with congenital aniridia and cataract, which can expands the mutation spectrum of... 
congenital aniridia | congenital cataract | PAX6 gene | autosomal dominant
Journal Article