Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

American Journal of Human Genetics

Volumn 89, Issue 3, 2011, Pages 464-473

  Khan, Kamron ^a,b   Rudkin, Adam ^c   Parry, David A ^a   Burdon, Kathryn P ^c   McKibbin, Martin ^a,b   Logan, Clare V ^a   Abdelhamed, Zakia I A ^a,d   Muecke, James S ^e   Fernandez Fuentes, Narcis ^a   Laurie, Kate J ^c   Shires, Mike ^a   Fogarty, Rhys ^c   Carr, Ian M ^a   Poulter, James A ^a   Morgan, Joanne E ^a   Mohamed, Moin D ^a,f   Jafri, Hussain ^g   Raashid, Yasmin ^h   Meng, Ngy ⁱ   Piseth, Horm ^j   Toomes, Carmel ^a   Casson, Robert J ^e   Taylor, Graham R ^a   Hammerton, Michael ^e   Sheridan, Eamonn ^a   Johnson, Colin A ^a   Inglehearn, Chris F ^a   Craig, Jamie E ^c   Ali, Manir ^a   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c FLINDERS UNIVERSITY   (Australia)

^d AL AZHAR UNIVERSITY   (Egypt)

^e ROYAL ADELAIDE HOSPITAL   (Australia)

^f ST THOMAS HOSPITAL   (United Kingdom)

^g Gene Tech Lab   (Pakistan)

^h KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

ⁱ Preah Ang Duong Eye Hospital   (Cambodia)

^j FRED HOLLOWS FOUNDATION   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PEROXIDASE; PEROXIDASIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ANTERIOR EYE CHAMBER; ANTERIOR SEGMENT DYSGENESIS; ARTICLE; CATALYSIS; CONGENITAL CATARACT; CONSANGUINEOUS MARRIAGE; CORNEA; CORNEA OPACITY; DEVELOPMENT GLAUCOMA; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC DIFFERENCE; GLAUCOMA; HEREDITY; HOMOZYGOSITY; HUMAN; LENS EPITHELIUM; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; TRABECULAR MESHWORK;

ANIMALS; BASE SEQUENCE; CATARACT; CORNEA; CORNEAL OPACITY; EXTRACELLULAR MATRIX PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GLAUCOMA; HUMANS; MICE; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEROXIDASE; SEQUENCE ANALYSIS, DNA;

EID: 80052739643     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.08.005     Document Type: Article

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