Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene

Arquivos Brasileiros de Oftalmologia

Volumn 69, Issue 3, 2006, Pages 289-297

  Povoa, Cristine Araújo ^a,b   Santiago Malta, Roberto Freire ^a   de Moraes Rezende, Mariana ^a   Santana de Melo, Karla Fabiana ^a   Giannella Neto, Daniel ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b USP ^*  (Brazil)

Author keywords

Brazil; Genes; Genetic screening; Genotype; Glaucoma; Mutation; Open angle; Phenotype

Indexed keywords

ARGININE; CYSTINE; DNA; LYSINE; MYOCILIN; PROLINE; TYROSINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOMATION; AUTOSOMAL DOMINANT INHERITANCE; BRAZIL; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA ISOLATION; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GONIOSCOPY; HUMAN; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONSET AGE; OPEN ANGLE GLAUCOMA; OPTIC DISK CUP; PEDIGREE ANALYSIS; PENETRANCE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIMARY GLAUCOMA; RANK SUM TEST; SEQUENCE ANALYSIS; VISUAL FIELD DEFECT;

EID: 33745836151     PISSN: 00042749     EISSN: 16782925     Source Type: Journal    
DOI: 10.1590/S0004-27492006000300002     Document Type: Article

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