Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene

Molecular Vision

Volumn 14, Issue , 2008, Pages 495-499

  Afshari, Natalie A ^a   Bahadur, Rosanna P ^a   Eifrig Jr , David E ^a   Thogersen, Ida B ^b   Enghild, Jan J ^b   Klintworth, Gordon K ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b AARHUS UNIVERSITY   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; METHIONINE; TRANSFORMING GROWTH FACTOR BETA1; VALINE;

ADULT; AFRICAN AMERICAN; ARTICLE; BIOMICROSCOPY; CASE REPORT; CHEEK MUCOSA; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; CORNEA TRANSPLANTATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA EXTRACTION; DNA SEQUENCE; EPITHELIUM CELL; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOLECULAR GENETICS; NUCLEIC ACID BASE SUBSTITUTION; PENETRATING KERATOPLASTY; PHENOTYPIC VARIATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; SEQUENCE ANALYSIS; SLIT LAMP; VISUAL ACUITY; VISUAL IMPAIRMENT;

BASE SEQUENCE; CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; HOMOZYGOTE; HUMANS; MALE; METHIONINE; MIDDLE AGED; MUTATION; TRANSFORMING GROWTH FACTOR BETA; VALINE;

EID: 41449090612     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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