CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability

Molecular Vision

Volumn 15, Issue , 2009, Pages 417-431

  Campos Mollo, Ezequiel ^a   López Garrido, María Pilar ^b,c   Blanco Marchite, Cristina ^d   Garcia Feijoo, Julián ^c,e   Peralta, Jesús ^f   Belmonte Martínez, José ^a   Ayusu, Carmen ^g   Escribano, Julio ^b,c  

^a HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^b UNIVERSITY OF CASTILLA LA MANCHA   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^e HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^f HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^g CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; DNA; ETHOXYRESORUFIN DEETHYLASE;

ADOLESCENT; ADULT; ARTICLE; CATALYSIS; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME STABILITY; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NULL ALLELE; PATHOGENESIS; PENETRANCE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPAIN; WILD TYPE;

AMINO ACID SEQUENCE; ARYL HYDROCARBON HYDROXYLASES; CASE-CONTROL STUDIES; CELL LINE; CHILD, PRESCHOOL; CYTOCHROME P-450 CYP1A1; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; FEMALE; GLAUCOMA; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SPAIN;

EID: 61849142774     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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