Clinical and molecular characterization of a family with autosomal recessive cornea plana

Archives of Ophthalmology

Volumn 123, Issue 9, 2005, Pages 1248-1253

  Ebenezer, Neil D ^a   Patel, Chetankumar B ^a   Hariprasad, Seenu M ^b   Chen, Li L ^a   Patel, Reshma J ^a,b   Hardcastle, Alison J ^a   Allen, Richard C ^b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CULLEN EYE INSTITUTE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; DNA; KERATOCAN; LEUCINE; KERA PROTEIN, HUMAN; PROTEOGLYCAN;

AMINO ACID SUBSTITUTION; ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CODON; CONGENITAL CORNEA DYSTROPHY; CONSANGUINEOUS MARRIAGE; CORNEA ENDOTHELIUM; DNA DETERMINATION; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; HISPANIC; HOMOZYGOSITY; HUMAN; HYPERMETROPIA; IRIS; KERATOMETRY; MALE; MEDICAL EXAMINATION; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; OPTOMETRY; PREDICTION; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN TERTIARY STRUCTURE; SEQUENCE ANALYSIS; TANDEM REPEAT; AMINO ACID SEQUENCE; CONGENITAL MALFORMATION; CONSANGUINITY; CORNEA; EYE MALFORMATION; GENETICS; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

AMINO ACID SEQUENCE; CHILD; CONSANGUINITY; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL TOPOGRAPHY; DNA MUTATIONAL ANALYSIS; EXONS; EYE ABNORMALITIES; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEOGLYCANS;

EID: 24944590458     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.123.9.1248     Document Type: Article

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