Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)

Ophthalmic Genetics

Volumn 34, Issue 1-2, 2013, Pages 21-26

  Zhao, Jun Hong ^a,b   Jin, Tian Bo ^c   Liu, Qing Bo ^a   Chen, Chao ^c   Hu, Hai Tao ^a  

^a XI'AN JIAOTONG UNIVERSITY   (China)

^b Xi'an Maternal and Child Health Hospital   (China)

^c NORTHWEST UNIVERSITY   (China)

Author keywords

Fibrillin 1 gene (FBN1); Glaucoma; Isolated ectopia lentis (EL); Pupillary abnormality

Indexed keywords

FIBRILLIN 1; GENOMIC DNA;

ADHESION; ADULT; ARTICLE; BIOMICROSCOPY; CENTRAL CORNEAL THICKNESS; DURAL ECTASIA; EARLY ONSET ISOLATED ECTOPIA LENTIS; ECHOCARDIOGRAPHY; ECTOPIA LENTIS; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GLAUCOMA; GONIOSCOPY; HUMAN; HYPERMETROPIA; INTRAOCULAR PRESSURE; KERATOMETRY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OPTOMETRY; PNEUMOTHORAX; PRIORITY JOURNAL; SLIT LAMP; STRABISMUS; VISUAL ACUITY;

ADULT; ARGININE; CYSTEINE; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; EXONS; FEMALE; GLAUCOMA, OPEN-ANGLE; GONIOSCOPY; HUMANS; INTRAOCULAR PRESSURE; MALE; MICROFILAMENT PROTEINS; MICROSCOPY, ACOUSTIC; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PUPIL DISORDERS; TONOMETRY, OCULAR;

EID: 84876041761     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.718029     Document Type: Article

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