Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population

Molecular Vision

Volumn 19, Issue , 2013, Pages 1707-1722

  Millá, Elena ^b,c   Mañé, Begoña ^a   Duch, Susana ^d   Hernan, Imma ^a   Borràs, Emma ^a   Planas, Ester ^a   Dias, Miguel de Sousa ^a   Carballo, Miguel ^a   José Gamundi, María ^a  

^a HOSPITAL DE TERRASSA   (Spain)

^b Glaucoma Unit   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d Institut Comtal d' Oftalmologia (ICO)   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; MYOCILIN;

ARTICLE; AXENFELD RIEGER SYNDROME; CLOSED ANGLE GLAUCOMA; CYP1B1 GENE; DISOMY; DNA POLYMORPHISM; ETHNIC GROUP; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRAOCULAR HYPERTENSION; JUVENILE ONSET OPEN ANGLE GLAUCOMA; LOW TENSION GLAUCOMA; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYOC GENE; OPEN ANGLE GLAUCOMA; PHENOTYPE; PIGMENT GLAUCOMA; POPULATION RESEARCH; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; PSEUDOEXFOLIATIVE GLAUCOMA; SPANISH;

ANTERIOR EYE SEGMENT; ARYL HYDROCARBON HYDROXYLASES; CONSANGUINITY; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; EYE PROTEINS; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLAUCOMA; GLYCOPROTEINS; HEALTH SURVEYS; HETEROZYGOTE; HUMANS; INCIDENCE; MALE; MUTATION; PEDIGREE; SPAIN;

EID: 84881261011     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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