Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma

Clinical Genetics

Volumn 77, Issue 1, 2010, Pages 70-78

  Lopez Garrido M P ^a,b   Blanco Marchite, C ^c   Sanchez Sanchez F ^a,b   Lopez Sanchez E ^d   Chaques Alepuz V ^d   Campos Mollo, E ^e   Salinas Sanchez A S ^c   Escribano, J ^a,b  

^a Universidad de Castilla La Mancha   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^d HOSPITAL ARNAU DE VILANOVA   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

Author keywords

CYP1B1; Hypomorphic allele; POAG

Indexed keywords

CYTOCHROME P450 1B1;

ADULT; AGED; ARTICLE; CELL STRAIN HEK293; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME STABILITY; EXON; EYE SURGERY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MUTANT; NUCLEOTIDE SEQUENCE; NULL ALLELE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RISK FACTOR; SPAIN; WILD TYPE;

AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ARYL HYDROCARBON HYDROXYLASES; CELL LINE; CYTOCHROME P-450 CYP1A1; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GLAUCOMA, OPEN-ANGLE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; SPAIN;

EID: 73049105367     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01284.x     Document Type: Article

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