Novel L558P mutation of the TGFBI gene found in ukrainian families with atypical corneal dystrophy

Ophthalmologica

Volumn 223, Issue 3, 2009, Pages 207-214

  Pampukha, Volodymyr M ^a   Kravchenko, Sergey A ^a   Tereshchenko, Feodor A ^a   Livshits, Liudmyla A ^a   Drozhyna, Galyna I ^b  

^a INSTITUTE OF MOLECULAR BIOLOGY AND GENETICS   (Ukraine)

^b FILATOV INSTITUTE OF EYE DISEASES AND TISSUE THERAPY   (Ukraine)

Author keywords

Corneal dystrophy; Mutation analysis; TGFBI gene

Indexed keywords

AMYLOID; GENOMIC DNA; KERATOEPITHELIN; LEUCINE; PROGRANULIN; PROLINE; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ADULT; ALPHA HELIX; ARTICLE; ATYPICAL CORNEAL DYSTROPHY; CLINICAL ARTICLE; CODON; CONTROL GROUP; CONTROLLED STUDY; CORNEA; CORNEA DYSTROPHY; DNA EXTRACTION; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HIGH RISK PATIENT; HISTOLOGY; HISTOPATHOLOGY; HUMAN; LEUKOCYTE; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; PENETRATING KERATOPLASTY; POLYMERASE CHAIN REACTION; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; UKRAINE;

ADULT; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL STROMA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; TRANSFORMING GROWTH FACTOR BETA1; UKRAINE;

EID: 60049097857     PISSN: 00303755     EISSN: None     Source Type: Journal    
DOI: 10.1159/000202645     Document Type: Article

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