An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation

Ophthalmic Genetics

Volumn 28, Issue 3, 2007, Pages 169-174

  Yellore, Vivek S ^a   Sonmez, Baris ^a   Chen, Michael C ^a   Rayner, Sylvia A ^a   Thonar, Eugene J ^b   Aldave, Anthony J ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

^b RUSH MEDICAL COLLEGE   (United States)

Author keywords

CHST6; Macular corneal dystrophy; Uniparental isodisomy

Indexed keywords

KERATAN SULFATE; LEUCINE; PROLINE;

ADULT; ARTICLE; BOWMAN MEMBRANE; CASE REPORT; CORNEA DYSTROPHY; DNA ISOLATION; DNA SEQUENCE; EXON; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP; UNIPARENTAL DISOMY;

ADULT; AMINO ACID SEQUENCE; CONSERVED SEQUENCE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; GENOTYPE; HOMOZYGOTE; HUMANS; KERATAN SULFATE; LEUCINE; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROLINE; SULFOTRANSFERASES; UNIPARENTAL DISOMY;

EID: 34848867805     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701407925     Document Type: Article

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