A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa

Ophthalmology

Volumn 111, Issue 10, 2004, Pages 1910-1916

  Grover, Sandeep ^a   Fishman, Gerald A ^a   Stone, Edwin M ^b  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; ELECTRORETINOGRAPHY; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NIGHT BLINDNESS; OPHTHALMOSCOPY; PERIMETRY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; SLIT LAMP; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ARGININE; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; HUMANS; IMP DEHYDROGENASE; MALE; NIGHT BLINDNESS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROLINE; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELDS;

EID: 4744352024     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2004.03.039     Document Type: Article

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