Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2

Clinical Genetics

Volumn 76, Issue 6, 2009, Pages 552-557

  Lopez Garrido M P ^b   Campos Mollo, E ^c   Harto, M A ^d   Escribano, J ^a  

^a Universidad de Castilla La Mancha   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

^d HOSPITAL INFANTIL LA FE   (Spain)

Author keywords

CYP1B1; Isodisomy; Primary congenital glaucoma; Uniparental isodisomy

Indexed keywords

CYTOCHROME P450 1B1; GENOMIC DNA;

AMBLYOPIA; ANAMNESIS; ANISOMETROPIA; ARTICLE; CASE REPORT; CAUSAL ATTRIBUTION; CHROMOSOME 2; CHROMOSOME SEGREGATION; CONGENITAL GLAUCOMA; CORNEA OPACITY; DNA SEQUENCE; EPIPHORA; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; INTRAOCULAR PRESSURE; MICROSATELLITE MARKER; NEWBORN; PHOTOPHOBIA; PRIORITY JOURNAL; TRABECULECTOMY; UNIPARENTAL DISOMY; VISUAL ACUITY;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 2; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FATHERS; FEMALE; GLAUCOMA; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; UNIPARENTAL DISOMY;

EID: 70749132231     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01242.x     Document Type: Article

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