Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy

European Journal of Ophthalmology

Volumn 18, Issue 3, 2008, Pages 345-350

  Huerva, Valentin ^a,b   Velasco, A ^a   Sanchez M C ^a   Matias Guiu X ^a  

^a HOSPITAL ARNAU DE VILANOVA   (Spain)

^b NONE   (Spain)

Author keywords

ACD; Avellino corneal dystrophy; BIGH3 gene; Corneal dystrophy; Granular corneal dystrophy; R124H

Indexed keywords

ADENINE; ARGININE; GENOMIC DNA; GUANINE; HISTIDINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BIOMICROSCOPY; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA DYSTROPHY; DNA ISOLATION; EXON; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; HUMAN; MALE; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPAIN;

EID: 54749135323     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210801800305     Document Type: Article

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